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RareConnect respects and protects the privacy of people who use the website (www.rareconnect.org). \n\n## What information do we collect?\n\nRareConnect only collects unique information about you when you specifically and knowingly provide such information (for example, at the time of registration we collect your email address and month/year of birth, we also archive the content from posts). You are encouraged to use a unique username at the time of registration, and not an easily identifiable one (such as your name). By providing personal details you are consenting to their use in accordance with the intent of RareConnect, this policy and the Terms of Service. Such personal information will be used to identify you as a unique user, and the information will not be shared with any other entity or organization, unless you have specifically requested us to do so or we are required to do so by law.\n\n## How your information is used\n\nRareConnect uses data that you share on the platform in several ways, according to the sensitivity of the information and your privacy settings:\n\n- **Statistics:** aggregate demographic, health, and usage data may be shared publicly and included in presentations and reports. Examples:\n - Number of users in a particular community;\n - Average number of posts per user;\n - Location information where traffic originates from; and\n - Number of visitors on the site and number of visits.\n \n\n- **Translations:** textual content you share with the site may be sent to a third party translation service (such as Google Translate or Translators without Borders) over a secured connection. Examples:\n - Posts;\n - Comments; and,\n - Stories.\n\n\n- **Research:** RareConnect can be used to help you discover research studies that may be of interest. These studies will be posted on the individual Community pages and on the My Studies portal, and you will have the option of opting-in. None of your information will be used for research without your permission.  \n - \tWhen you enter the My Studies portal you will be shown a research portal Terms of Service and registration form. You will have to complete the registration form to be eligible to participate in the research studies. You will then have to consent to the terms of individual studies before being able to participate.  The data you enter through My Studies will be stored on a separate server from your RareConnect profile, to decrease the chances of you being identified in case of a security breach. \n\n\n- **User experience:** We use your preferences in your Account Settings to better your user experience at RareConnect. For example, in order to better tailor your community interaction, we send email notifications based on your preferences. \n\n\n- **Quality control:** RareConnect administrators may monitor site usage and content to improve the platform, fight spam, find bugs, and ensure behaviour adheres to the site’s Terms of Service. Examples:\n - IP history;\n - Site interactions;\n - Error reports, and,\n - User feedback.\n\n\n## Your Activity\n\nRareConnect uses Google Analytics to anonymously monitor how users move through the site, and uses analytics to improve user experience.\n\nRareConnect uses a feature, called “local storage.” Local storage is used to keep login sessions alive and to record the content contributions of logged-in users: posting, commenting, flagging, editing posts, joining communities, etc. If your computer does not support local storage, cookies will be used instead. Cookies store small amounts of data on your computer about your visit to our site.\n\n## Data security\n\nWe take data protection seriously. This site has security measures in place to protect the loss, misuse and alteration of the information in our control. Despite the mechanisms in place to keep all information secure and to protect your privacy, there is always a risk of a privacy breach. If a privacy breach occurs, RareConnect will take immediate steps to contain the breach, and contact you as soon as reasonably possible in order to inform you of the breach, explain what data may have been compromised and suggest steps you might consider taking in order to secure your personal information.\n\nRareConnect is not responsible for the privacy practices or the content of web sites external to the domain “RareConnect.org”.\n\n## Exporting your information\n\nYou can export a copy of your posted content from your RareConnect account if you want to back it up or use it outside of RareConnect at any time.  This can be done in your Account Settings.\n\n## Deleting your account\n\nYou can delete your account if you wish.  This can be done in your Account Settings. Please remember that anything you have posted may have been copied/quoted by others and used in their posts. As such, it may be impossible to delete everything that you have ever posted on RareConnect.  If you have any questions about this deleting content, you may contact: [email protected]\n\n## We are committed to data protection\n\nWe will continue to review our privacy policy and will notify you of any significant changes. We encourage you to periodically review this policy for the latest information on our privacy practices.\n\n## Who can I ask if I have additional questions?\n\nIf you have any questions about this privacy statement, the practices of this site, or your dealings with this website, you may contact: [email protected]","title":"Privacy Policy"},"profile":{"avatar":{"remove":{"button":{"label":"Remove"}},"upload":{"button":{"label":"Upload"},"error":"Image upload failed","sizeLimit":"Image exceeds size limit of 5MB","success":"Image uploaded"}},"edit":{"description":{"helper":"Description cannot be more than 300 characters.","label":{"organization":"Your organization description","person":"A little bit about you"}},"error":"Error editing your profile","explanation":{"organization":"Please describe your organization, your mission statement, and your geographic coverage to help people discover your organization and the work that you do.","person":"The more details you add, the better we can connect you with people who share similar experiences to yours as well as providing you with more accurate and relevant content."},"gender":{"female":"Female","label":"Your gender","male":"Male","other":"Other","undisclosed":"Prefer not to say"},"geographic_scope":{"country":"Country","global":"Global","label":"Your geographic coverage","locality":"City","region":"Region","unspecified":"Unspecified"},"language":{"label":"Language"},"location":{"disclaimer":"By sharing your location it can help facilitate discussion with people in your area. However, please remember that due to the rarity of some disorders it may be possible that you can be identified by adding your location as part of your profile.","error":"Please select a valid location from the drop-down list","label":"Your location"},"name":{"label":"Your organization name"},"success":"Profile saved","visibility":{"global":{"disclaimer":"If you choose to make your profile publicly visible, you understand that your username and profile can be searched for and accessed by individuals who are not registered members of RareConnect.","label":"Profile is visible to everyone (even Google)"},"label":"Your profile visibility","users":{"label":"Profile is visible to users on RareConnect"}},"website":{"label":"Your website or blog"}},"name":{"badge":{"organization":{"tooltip":"Patient Organization"}}},"page":{"accountType":{"admin":"Admin","member":"Member","organization":"Organization"},"joined":"Joined"},"save":{"button":{"label":"Save changes"}},"summary":{"stats":{"followers":"Followers","posts":"Posts"}},"tabs":{"activity":{"description":"Below is a list of all your posts on the site. This is an easy way to see your activity and track reactions from other RareConnect members.","empty":"You have not posted anything yet","label":"My Activity","title":"My Activity"},"bookmarks":{"description":"Here you can see posts and comments that you've saved. Look in the \"more\" menu to bookmark posts!","empty":{"description":"You have not bookmarked any posts or comments yet."},"label":"My Bookmarks","title":"My Bookmarks"},"communities":{"description":"Below is a list of all the communities you have joined.","empty":"You have not joined any communities yet","header":"My communities"},"feed":{"communityLink":"View all communities","description":"Below are the latest posts from people you follow and communities you are a part of. ","empty":{"description":"Head over to the communities page to visit or join a community and find more people to follow."},"label":"My Feed","title":"My Feed"},"network":{"empty":{"description":{"followers":"You do not have any followers. The more active you are on RareConnect, the more people will come across your profile.","following":"You are not following anyone. Follow members to see their activity on your feed."}},"label":"My Network","sections":{"followers":"Followers","following":"Following"},"title":"My Network"},"stories":{"description":"Introduce yourself to other RareConnect members and share your experience. Your stories will appear in communities that you have joined.","label":"My Stories","title":"My Stories"}},"username":{"anonymize":"[ hidden ]"}},"reactions":{"deleted":{"comment":"This comment has recently been deleted","post":"This post has recently been deleted"}},"report":{"actions":{"cancel":"Cancel","submit":"Submit"},"description":"If so, please choose one of the following reasons.","error":"Your report could not be processed at this time","link":"Learn more","reasons":{"harassmentBullying":"Harassment or bullying","hate":"Hateful content","medicalAdvice":"Giving medical advice","salePromotion":"Sale or promotion of drugs","selfInjury":"Self injury","sharePersonalInfo":"Sharing personal information","spam":"Spam"},"success":"Your report has been received successfully","title":"Do you want to anonymously report this content?"},"search":{"empty":"Sorry, we couldn’t find any results for this search.","filterCommunity":"Limit my search to the %{communityName} community","label":"Search","sidebar":{"comments":"Comments","communities":"Communities","other":"Other","posts":"Posts","profiles":"Profiles"},"title":"Search RareConnect","titleWithCommunityName":"Search the %{communityName} community"},"session":{"expired":{"error":"Your session has expired"}},"signup":{"stepper":{"account":{"confirmPassword":"Confirm Password","description":{"organization":"Please register with your email below:","person":"Do you already have an account on one of these sites? Click the logo to register:"},"existingAccount":"Already have an account?","finish":"Please fill in the rest of your information in order to complete the signup process.","form":"Or you can register with your email and password below:","password":"Password","passwordError":"Your password must be at least 8 characters","passwordMatchError":"Your password does not match","stepLabel":"Account","title":"Please provide your account details"},"buttons":{"back":"back","next":"next"},"details":{"birthday":{"description":"Please provide your date of birth. This will be kept private.","invalid":"Please enter a valid date of birth","label":"Date of birth:","monthInvalid":"Invalid month","title":"Enter your date of birth","yearInvalid":"Invalid year"},"email":{"description":"Please provide an email address to contact you below. Your email is important for resetting your password and you can use it to log in as well. Your email address will be kept private and will only be visible by RareConnect.org administrators.  Your email will not be shared with any third parties.","exists":"This email is already associated with a RareConnect account","invalid":"Please enter a valid email address","label":"Email","title":"Provide an email"},"stepLabel":"Details","username":{"descriptionOrganization":"Please provide a username below. Your username should be unique and allow users to identify your organization easily. You can use letters (a-z), numbers (0-9), and underscores (_).","descriptionPerson":"Please pick a username (you can change it later). Your username will be public, so please pick a username that does not identify you if you wish to remain anonymous. You can use letters (a-z), numbers (0-9), and underscores (_).","exists":"Sorry, this username is already taken","forbidden":"This username is forbidden.","invalid":"Please use only letters (a-z), numbers (0-9), and underscores (_)","label":"Username","title":"Pick a username"}},"exit":{"buttons":{"cancel":"Cancel","exit":"Exit"},"confirmation":"Are you sure you want to exit the signup process?","declineTerms":"In order to use RareConnect you must accept the terms of service. If you have any questions about the terms of service please contact us at [email protected]","title":"Exit sign up?"},"profile":{"description":"Welcome to the registration section of RareConnect.org. In just a few simple steps you will join the supportive social network for rare disease patients. Look around, join a community and get connected! If you already have an account, please click the log in link:","login":"login","oauth":{"message":"Sign up through:","or":"OR"},"organization":{"description":"Patient organizations are integral to the success of RareConnect. We rely on patient organizations to help provide disease expertise and share information about their programs, services, and events.","label":"Organization"},"person":{"description":"Connect with others who understand you. Learn about research and the latest treatments. See what advocacy organizations are doing around the world. Find helpful resources and information from experts.","label":"Individual"},"stepLabel":"Profile","title":"Create your RareConnect Account","type":{"prompt":"I am a..."}},"returningUser":{"buttons":{"okay":"okay"},"description":"EURORDIS and Care4Rare Canada have partnered up to maintain and improve the RareConnect website.  Although your user experience will not change, we have updated our Terms of Service.  You can read the full Terms of Service here. To make it easier, here is a summary of the changes:\n\n  - We’ve updated our mission statement to emphasize the empowerment of the rare disease community\n  - We’ve updated our social media terms\n  - We’ve reinforced user commitments to RareConnect\n  - We’ve emphasized that content on RareConnect should not be a substitute for professional medical advice and you should always consult a physician or health care provider with any questions you may have.\n\nIf you have any questions, please email us at [email protected]","title":"We've updated our Terms of Service!"},"terms":{"accept":"I accept","checkbox":"I agree to these terms and this use of my data","checkboxAlternate":"I agree to these terms","decline":"I do not accept","hint":"Please scroll through to read and accept the terms of service.","remove":{"description":"If you do not accept RareConnect's new Terms of Service, your account will be removed. If you change your mind you will be required to register for a new account. If you would like to discuss the terms of service contact [email protected]","title":"Remove your account?"},"stepLabel":"Terms"}}},"termsOfService":{"description":"\n### The English Terms of Service are the official version. Translations from English may also be available.\n\nOur mission is to empower the rare disease community by bringing people together to share experiences and support one another.\n\nTo advance this mission, RareConnect will:\n-\tallow members to find support by connecting with a community of people with similar symptoms and experiences;\n-\thelp patient advocacy organizations engage with and support their communities; \n-\tstrive to provide a safe and supportive environment for its members; and,  \n-\thelp members to discover research studies that may be of interest.\n\nHundreds of volunteer moderators and members of patient advocacy organizations manage these communities, with the support of several full-time administrators. \n\nContent on RareConnect is contributed by users on the site and is not medical advice. The contents of RareConnect, (such as text, graphics, images, information obtained from third parties, etc), and other material contained on RareConnect (hereinafter \"Content\") are for informational purposes only. The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking such advice because of something you have read on RareConnect. \n\nReliance on any information and/or Content provided by RareConnect members, moderators, administrators or others appearing on RareConnect at the invitation of the RareConnect team, or other visitors or users to RareConnect, is solely at your own risk. Content and links appearing on this site are not endorsed by the RareConnect team. The RareConnect team takes no responsibility for, does not expressly or implicitly endorse, and does not assume any liability for, any content on RareConnect.  Further, there are no representations or warranties of any kind, express or implied with respect to any content.\n\nSome RareConnect members may choose to participate in research studies.  Information about such studies will be made available through Community pages. Any information submitted by members through the My Studies portal (which becomes visible when studies are available) will only be shared with researchers who have received appropriate Research Ethics Board approval for their proposed study.  My Studies participation is completely optional and will not affect your participation in the RareConnect social platform.  \n\nPlease visit ABOUT to learn more about RareConnect and the services we offer.\n\n\n## Our Data Collection Policy\nTo provide services through RareConnect, we must collect and use personal data. We detail our practices in our Privacy Policy section, which you must agree to in order to use RareConnect. We also encourage you to review your personal privacy options in your Account Settings.\n\nIf you have any questions about our privacy policy, please contact [email protected]\n\n## Your Privacy Choices \nBefore posting a message, every member should be aware that posting might share possibly confidential information to be linked to personal identifiers (the user name and profile information a member chooses to provide).\nThis information will become available to others and no one knows the identity or the motivation of those accessing the information. Posted messages can also be found by search engines (e.g., Google).\nIt is therefore important to be careful when disseminating personal information (for example name or phone number) or when it concerns the privacy of relatives, especially children.\nIn addition, every member should be aware that some of their own posts can be included in the responses of other participants, and can, therefore, never be removed from the archives of this online community.\nIt is advisable to weigh the potential benefits of participation in this online community with attendant risks to the confidentiality of information.\nCareful consideration should be given by users before agreeing to disclose location information on the community map. Due to the nature of the diseases as being rare and the possible isolation of members, by disclosing location information, it may be possible that users can be identified.  If users choose to add their location to the community map, they should be aware that identification may naturally result.\n\n## RareConnect Social Media\nIf you choose to make your visibility setting public (for stories and posts), you understand that your content can be accessed by individuals who are not registered members of RareConnect and can also be found by a simple search engine. Additionally, RareConnect may share your publicly posted content on RareConnect’s social media pages, and may contact you for further details or additional uses.\n\nIf your visibility settings are private, visible only to members of RareConnect, you may be contacted by a RareConnect administrator for permission to post your content on RareConnect’s social media pages.  If you choose not to share your posts on social media, your user experience on RareConnect will not be affected. \n\n## Your Commitments to RareConnect\nWe are committed to keeping RareConnect a safe and supportive environment for everyone, so in using RareConnect you are making the following commitments:\n\n### You will not register under various pseudonyms in order to post multiple messages.\n\n### You will not offer medical advice:\n\nMessages on forums must be for informational purposes only.  You must not offer, or be perceived to be offering, medical advice.\n\nThe information posted by users is often partial, and may only cover one aspect of a person’s illness(es) or experience(s).  You will avoid generalizing from personal experience(s) and will clearly indicate if and when you are sharing your own personal story. \n\nAny information relating to therapy or diagnosis, even if it comes from users who have ‘expert knowledge’ of their disease, must be received with caution.  Only your physician is authorized to offer and/or confirm medical diagnosis and/or advice.  \n\n### You will not recommend treatments:\n\nTreatment options should only be provided by a qualified physician and should depend on the particulars of each individual’s medical history. The treatment choices of other users must be respected and forum members should never claim that a specific treatment is the only one that is effective for a particular disease.\n\nForum members must also be careful when sharing their experience(s) with products and/or practices that have not been properly evaluated for the disease or symptom that is the subject of discussion within the forum. \n\n### You will not post any unauthorized advertising messages:\n\nAny form of advertising is not allowed in the forums or in direct messaging. This applies with respect to treatments, clinical trials, registries, physicians, care facilities, etc.\n\nSome weblinks may be shared, but only those that link to content which conforms with these Commitments that you are making to RareConnect (for example, you may link to personal pages that meet RareConnect standards, or you may link to websites that provide scientifically supported information that is relevant to the forum you are in). \n\n ### You will be respectful of other members. You will do this by: \n\n- respecting the opinions, beliefs, and differences of other members;\n- being polite and keeping a measured tone in all exchanges;\n- refraining from undermining the morale of other members; \n- not posting hateful, threatening, violent or otherwise inappropriate content;\n- not spreading rumors or content that may harm or endanger the health and safety of others.\n\n### You will not post content or engage in behaviour that is illegal:\n\n All members must comply with the laws of their country. Particular emphasis must be on avoiding the spread of illegal content, respecting the privacy of other members, and protecting copyright and other intellectual property laws.\n\n\n### You will not collect users’ content or information from this website for your own personal or commercial use. This applies to any and all means of collection (e.g. manual, automated, direct and/or indirect). \n\nModerators and administrators reserve the right to remove and disconnect any member or participant who violates these restrictions and commitments and this may be done in their sole and exclusive discretion.\n\nRareConnect Administrators may, in accordance with their legal obligations, act quickly to remove data or make access impossible when they have knowledge from a third party that a member has circulated illegal content through RareConnect.","title":"Terms of Service"},"test":"test","translate":{"error":"The content could not be translated at this time","label":"Translate to %{language}"},"unsubscribe":{"description":"You have successfully unsubscribed from email notifications. If you would like to enable or customize your email notifications, please adjust your preferences in [account settings](%{url})","error":{"description":"We cannot process your request to unsubscribe at this time. You can try again later, or email us at [email protected]","title":"Oops, something went wrong!"},"title":"Successfully Unsubscribed"},"user":{"network":{"follow":{"button":{"label":"Follow"},"error":"Failed to follow user","success":"Successfully followed user"},"subscription":{"emailPrefs":"Email preferences","notSubscribed":"Followed","subscribe":{"error":"Failed to subscribe","label":"Subscribe","success":"Successfully subscribed"},"subscribed":"Subscribed","unsubscribe":{"error":"Failed to unsubscribe","label":"Unsubscribe","success":"Successfully unsubscribed"}},"unfollow":{"button":{"label":"Unfollow"},"error":"Failed to unfollow user","success":"Successfully unfollowed user"}},"tabs":{"activity":{"description":"Below is a list of %{username}'s posts. If you follow %{username}, their posts will appear in your feed.","empty":"%{username} has not posted anything yet.","label":"Activity","title":"Activity"},"communities":{"description":"Below is a list of all the communities %{username} has joined.","empty":"%{username} has not joined any communities yet","header":"%{username}'s communities"},"network":{"empty":{"description":{"followers":"%{username} does not have any followers yet.  Click the follow button if you'd like to follow them.","following":"%{username} is not following any users yet."}},"label":"Network","title":"Network"},"stories":{"description":"Below is a list of %{username}'s stories. If you follow %{username}, their stories will appear in your feed.","empty":"%{username} has not shared any stories yet.","label":"Stories","title":"Stories"}}},"retireBanner":{"date":"December 5th, 2023","text":"RareConnect was retired on December 5th, 2023. Users can read posts and comments made before Dec 5th, 2023 across the existing communities. However, users cannot create new communities or posts, or use the private message function. For more information, please see the announcement post: "},"9q21.13-microdeletion-syndrome":{"description":"Genotype-phenotype comparisons of 13 patients revealed several common major characteristics including significant developmental delay, epilepsy, neuro-behavioural disorders and recognizable facial features including hypertelorism, feature-less philtrum, and a thin upper lip.  \n\nThe Boudry-Labis et al., article strongly suggests that these deletions are responsible for a new genetic syndrome characterised by mental retardation with speech delay, epilepsy, autistic behaviour and moderate facial dysmorphy.","name":"9q21.13 microdeletion syndrome"},"ACER3-Leukodystrophy":{"description":"Mutations in the ACER3 gene on Chromosome 11 causes a deficiency in alkaline ceramidase, leading to a build-up in sphingolipids in the brain. The disease is known to manifest as early-onset (before age 2) and it's a very progressive Leukodystrophy.\nAfter normal early development, the infants reported presented between 6 and 13 months of age with developmental stagnation and regression, eventually rendering them unable to communicate and without purposeful movement. Peak motor performance consisted of rolling over, and language peaked at 5 to 10 words. Other neurologic features included truncal hypotonia, appendicular spasticity, dystonia, areflexia, pale optic discs, and neurogenic bladder.\n\n*The full description of this newly discovered disease is still in progress on such sites as OrphaNet.*","name":"ACER3-related early childhood-onset progressive leukodystrophy"},"ASH1L":{"description":"The ASH1L gene encodes a histone methyltransferase involved in epigenetic modification of chromatin. It associates with the transcribed region of genes important in development, including homeobox (HOX) genes. ASH1L catalyzes H3K36 methylation and plays important roles in development (summary by Okamoto et al., 2017). ASH1L also contributes to nucleotide excision repair (NER) of DNA with cyclobutane pyrimidine dimer (CPD) lesions caused by ultraviolet (UV) irradiation (Balbo Pogliano et al., 2017). It has been associated with MRAD52.","name":"ASH1L-Related Disorder"},"DNM1-epileptic-encephalopathy":{"description":"In recent studies, de novo mutations in DNM1 have been identified in individuals with epileptic encephalopathy. Epileptic encephalopathies are severe brain disorders showing intractable seizures, frequent epileptogenic activities on electroencephalography (EEG), and severe developmental regression or retardation.","name":"DNM1 epileptic encephalopathy"},"MEIS2-Related-Disorder":{"description":"Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2.","name":"MEIS2-Related Disorder"},"RAC3":{"description":"Genetic changes (variants) in the RAC3 gene can cause a rare neurodevelopmental syndrome. There remains much to learn about the natural history and prevalence of associated features. To date, the few individuals reported in the medical literature have had global developmental delay, intellectual disability, abnormal tone, and structural abnormality of the brain such as polymicrogyria and callosal abnormalities.","name":"RAC3-related neurodevelopmental disorder"},"SCAR2":{"description":"Spinocerebellar ataxia, autosomal recessive type 2 (SCAR2) is a non-or-slowly progressive spinocerebellar ataxia disorder caused by two abnormal PMPCA gene copies. Symptom onset is usually at birth or in early childhood. Key symptoms include: ataxia (balance, gait, and coordination concerns), intellectual disability/learning disability of varying degree, dysarthria (speech changes), and nystagmus (uncontrolled eye movements).","name":"Spinocerebellar Ataxia, Autosomal Recessive Type 2 (SCAR2)"},"SYT1":{"description":"SYT1-Associated Neurodevelopmental Disorder\n\nSYT1 (Synaptotagmin 1) is an important gene which controls communication between nerve cells in the brain.  So far, around twenty individuals around the world have been diagnosed with an alteration in the SYT1 gene (SYT1 mutation).  SYT1 mutations occur by chance and are not inherited from either parent (de novo).  \n\nProblems linked to SYT1 mutation include floppiness at birth (hypotonia), eye problems (squint, nystagmus, visual impairment) and developmental delay (late sitting and walking, severe communication impairment).  Some individuals have trouble controlling their movements (dystonia, dyskinesia or chorea).  Common habits include chewing on fingers, or tapping the chest or head.  Sleep problems are often a major issue.  A description frequently used by parents is “unpredictable”, switching from calm to very active without any obvious trigger. ","name":"SYT1 Connected"},"TRIP12-mutations":{"description":"TRIP12 gene mutations have been reoccuringly identified in cohorts of individuals affected by neurodevelopmental complications. Phenotypic range is variable, but often includes speech impairment, autism, developmental delay and/or motor problems. This group would like to help connecting affected individuals, families and loved ones, as well as invested or interested science and healthcare professionals.","name":"TRIP12 mutations"},"WAIHA":{"description":"Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40°C). [Source](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11931&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=90033&Krankheite(n)/Krankheitsgruppe=wAIHA&title=wAIHA&search=Disease_Search_Simple)","name":"Warm Autoimmune Hemolytic Anemia (wAIHA)"},"ZNF292":{"description":"Disease description: Individuals with genetic changes in the gene ZNF292 typically have developmental delay, mild to moderate intellectual disability, autism spectrum disorder, and attention deficit and hyperactivity disorder. Sometimes individuals may have other medical issues.\n\nInheritance: ZNF292-related neurodevelopmental disorder is an autosomal dominant condition, by which one disease-gene copy causes the disease. Genetic changes in the gene ZNF292 are often found to be a new change in the individual and not inherited from a parent (also known as de novo). \n\nRecurrence: If or when affected individuals have children, there is a 50% chance of passing on the disease-gene copy.","name":"ZNF292-related neurodevelopmental disorder"},"acanthamoeba-keratitis-ak":{"description":"Acanthamoeba keratitis is a rare corneal infection due to the protozoan Acanthamoeba that generally occurs in contact lens wearers and that is characterized by severe ocular pain, blepharospasm, photophobia, eye tearing, blurred vision and foreign body sensation. It can lead to impaired visual acuity if not treated promptly.","name":"Acanthamoeba keratitis (AK)"},"achalasia":{"description":"Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach (peristalsis), failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter (LES), to relax. It is the contraction and relaxation of the sphincter that moves food through the tube. [Source](https://rarediseases.org/rare-diseases/achalasia/)","name":"Achalasia"},"acromegaly":{"description":"Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. Source: Orphanet","name":"Acromegaly"},"actl6b":{"description":"Mutations of ACTL6B, a component of the chromatin remodeling machinery including the BAF complex, lead to different genetic conditions. People with bi-allelic ACTL6B mutations present global developmental delay, epileptic encephalopathy, and spasticity. While people with ACTL6B de novo heterozygous mutations display intellectual disability, ambulation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose). [Source](https://www.sciencedirect.com/science/article/abs/pii/S0002929719301181)","name":"Mutations of ACTL6B"},"acute-macular-neuroretinopathy":{"description":"Acute Macular Neuroretinopathy (AMN) is characterized by the sudden-onset of one or more paracentral scotomas, usually affecting only one eye but rarely bilateral, in the absence of any other ocular or visual symptoms. These scotomas persist generally indefinitely, though some resolve partially over months. Such scotomas are perifoveal and therefore spare fixation, and they have not been reported to cause significant impairment of visual function in the affected eye(s). [Source: EyeWiki](http://eyewiki.aao.org/Acute_Macular_Neuroretinopathy)","name":"Acute Macular Neuroretinopathy (AMN)"},"acute-necrotizing-encephalopathy":{"description":"Acute Necrotizing Encephalopathy ANE (or Genetic ANE1) is also known as Infection Induced Acute Encephalopathy (IIAE3), OMIM No. 608033. It is also known as ADANE and ANEC. Orpha No. 88619. \nFamilial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. Onset occurs during early childhood, typically a few days after a febrile illness. Manifestations include vomiting, seizures, spasticity, language regression, rigidity and abnormal posturing of the head. Residual neurologic impairment (muscle weakness, speech disturbance, intellectual deficit and mood disorders) persists in some patients. The disease is chronic in one out of two cases.","name":"Acute Necrotizing Encephalopathy (ANE)"},"adiposis-dolorosa":{"description":"Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigue, and memory disturbances. It usually occurs in adults, and women are more commonly affected than men. Adiposis dolorosa is chronic and tends to be progressive. [Source](https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa) \n\nOther names: Dercum disease, Dercum's disease","name":"Adiposis dolorosa"},"adrenal-insufficiency":{"description":"Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones. The adrenal glands are located just above the kidneys.\n\nAdrenal insufficiency can be primary or secondary. Addison’s disease, the common term for primary adrenal insufficiency, occurs when the adrenal glands are damaged and cannot produce enough of the adrenal hormone cortisol. The adrenal hormone aldosterone may also be lacking. Addison’s disease affects 110 to 144 of every 1 million people in developed countries.1\n\nSecondary adrenal insufficiency occurs when the pituitary gland—a pea-sized gland at the base of the brain—fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. If ACTH output is too low, cortisol production drops. Eventually, the adrenal glands can shrink due to lack of ACTH stimulation. Secondary adrenal insufficiency is much more common than Addison’s disease.\n\nSource: [NIH](https://www.niddk.nih.gov/health-information/endocrine-diseases/adrenal-insufficiency-addisons-disease)","name":"Adrenal Insufficiency"},"alagille-syndrome":{"description":"Alagille syndrome — also known as Alagille-Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia — is an autosomal dominant inherited disorder associated with liver, heart, eye and skeletal abnormalities, as well as characteristic facial features. Source: Alagille Syndrome Alliance","name":"Alagille syndrome"},"alkaptonuria-aku":{"description":"Alkaptonuria (AKU) is a rare autosomal recessive disease, affecting tyrosine metabolism. Patients accumulate homogentisic acid at 2000 times the normal rate, resulting in cartilage degradation and symptoms similar to early-onset osteoarthritis.\n\nSource: Participating patient organizations visible below","name":"Alkaptonuria (AKU)"},"allan-herndon-dudley-syndrome-mct8":{"description":"Allan-Herndon- Dudley (AHDS) is caused by a mutation of the MCT8 gene which is responsible for the transport of Thyroid Hormones to the brain. It is an X-link inherited mutation that only affects male patients. Because of the mutation, the blood brain barrier does not recognize the carrier and it doesn’t allow its passage into the brain. As a result, the brain doesn’t develop properly. Lack of thyroid hormones in the brain is the main cause for mental delay. So, the hormones are stuck in the body creating toxicity in the blood and putting pressure on vital organs.\n\nSynonyms \n\n- AHDS  \n- Allan-Herndon-Dudley syndrome  \n- Allan-Herndon syndrome  \n- MCT8-specific thyroid hormone cell transporter deficiency  \n- MCT8-THCT deficiency  \n- mental retardation, X-linked, with hypotonia  \n- THCT deficiency","name":"Allan Herndon Dudley Syndrome MCT8"},"alpha-1-antitrypsin-deficiency":{"description":"Alpha-1-antitrypsin deficiency is based on a common genetic disorder. The disease manifests itself in the lungs in the form of chronic obstructive bronchitis with pulmonary emphysema (COPD), as well as in the liver in the form of chronic hepatitis, developing into cirrhosis of the liver. The disease is diagnosed via the regulation of the alpha-1-antitrypsin concentration in the serum. All patients with chronic respiratory problems, which may indicate illness, should be tested for alpha-1-antitrypsin deficiency. Treatment options for lung capacity consist of anti-obstructive and anti-inflammatory treatments. Replacement therapy can also be added to the range of treatments available. The aim of the treatments is to slow the rapid decline in lung capacity. In the advanced stages, a lung or liver transplant might be necessary. Liver transplantation is curative, because alpha-1-antitrypsin is hardly present in the extrahepatic material, but it does not repair existing lung damage. The website of our alpha-1 patient organisation in Bern, Switzerland, can be found under: www.alpha-1.ch . There you can read all available information and use it how you wish.","name":"Alpha-1-antitrypsin deficiency"},"als":{"description":"A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Source: [Orphanet](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=106)","name":"Amyotrophic lateral sclerosis (ALS)"},"alstrom-syndrome":{"description":"Alström Syndrome is a Ciliopathy, it causes childhood blindness, hearing loss, dilated cardiomyopathy, obesity, type two diabetes, kidney failure and many associated problems.\n\nSource: Participating patient organizations visible below","name":"Alstrom Syndrome"},"alternating-hemiplegia":{"description":"Alternating hemiplegia (AHC) (also called alternating hemiplegia of childhood) is a rare neurological disorder.  \n\nSource: Participating patient organizations visible below","name":"Alternating Hemiplegia"},"amyloidosis":{"description":"Amyloidosis is a rare systemic disease caused by deposits of amyloid protein fibrils in one or more organs, causing the organs to malfunction. There are three main types: Primary Amyloidosis (AL), Secondary Amyloidosis (AA) and Familial Amyloidosis (FAP), which is the genetic form.                                             \n\nSource: Participating patient organizations visible below","name":"Amyloidosis"},"anorectal-malformations":{"description":"Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the anus and rectum as well as the urinary and genital tracts. Source: orphanet","name":"Anorectal malformations"},"aortic-dissection":{"description":"Aortic Dissection is a life threatening rare disease where the inner layer of the aorta (intima) has ruptured and the blood is now also flowing between the inner and outer layer of the aorta (like a double-barrel) and threatens to also make the outer layer rupture.\n\n_Source: Patient groups listed below._","name":"Aortic dissection"},"apert-syndrome":{"description":"Apert syndrome is a complex condition caused by premature fusion, or early closure, of one or more of the sutures (specialized joints between skull bones that expand during normal brain growth) that separate the bony plates of the skull. Apert syndrome is a condition that affects the craniofacial structures and the limbs. A syndrome is a disease or disorder that has more than one identifying feature or symptom. Children with Apert syndrome have bicoronal synostosis, midface hypoplasia and complex syndactyly of the hands and feet. Bicoronal synostosis means that both of the coronal sutures of the skull have fused together, causing an abnormal head shape and potentially increased pressure on the growing brain. Midface hypoplasia means that the upper two-thirds of the face do not grow normally, causing an abnormal appearance, dental problems (an abnormal bite) and maybe other problems such as sleep apnea. Complex syndactyly is a condition in which the fingers and toes are joined together, or webbed, because the bones in the tips of the digits are fused. Most children with Apert syndrome have delayed developmental milestones, though this varies from child to child. Apert syndrome requires highly specialized treatment by a team of craniofacial medical and surgical subspecialists.\n\nSource: Seattle Children's Hospital","name":"Apert Syndrome"},"arachnoiditis":{"description":"Arachnoiditis is an inflammatory condition of the arachnoid mater or 'arachnoid', one of the membranes known as meninges that surround and protect the nerves of the central nervous system, including the brain and spinal cord.","name":"Arachnoiditis"},"arvc":{"description":"ARVC (Arrhythmogenic Right Ventricular Cardiomyopathy) or ARVD (\"D\" for dysplasia) is a mostly hereditary disease of the heart, in which heart's muscle cells are replaced by fat and connective tissue. The conversion causes different dysfunctions of the heart:\n\n1) Stimulation disorders can lead to heart palpitations, arrhythmias and unconsciousness up to sudden cardiac death through ventricular fibrillation. \n\n2) Through converting heart muscle cells, the pumping power of the heart may become weaker in the long term. Changes in ECG, cardiac ultrasound and MRI, but also a (survived) sudden cardiac death in the family may indicate an ARVC; genetic diagnostics can help diagnose and identify vulnerable relatives. The fact that also the left ventricle may be affected leads frequently to misdiagnosis. Not every carrier develops clinical symptoms during its lifetime. The symptoms of ARVC can be treated by medication or through catheter ablation. To reduce the risk of a sudden cardiac death, patients with a high risk profile are advised to implant a defibrillator.","name":"Arrhythmogenic Right Ventricular Cardiomyopathy "},"asmd":{"description":"The name ASMD comes from the acronym of the English name of the disease (Acid Sphingomyelinase Deficiency). It is a rare disease of genetic origin, transmitted by autosomal recessive inheritance, with a variable affectation and has an approximate incidence of 1 case among 250,000 live births. With an estimated prevalence of 2,000 patients in Europe, the US and Japan. It belongs to the group of so-called lysosomal diseases, or diseases of lysosomal deposition, which is characterized by the accumulation of sphingomyelin in different organs causing cellular and visceral alterations. ASMD encompasses two diseases: Niemann-Pick B (NPB) and Niemann-Pick A (NPA). The cause of both is caused by the lack of the enzyme acid sphingomyelinase (ASM), generating an accumulation of sphingomyelin in the cells and causing a malfunction of different organs. This primary ASM deficit is a consequence of a mutation in the ASM gene (SMPD1). The NPB type has a variable diagnostic age although it usually begins in late childhood or adulthood. In many cases, patients with NPB overcome adolescence and can even live into adulthood. However, NPA is characterized by a neonatal onset and an early death around 2-3 years of age. [Source](https://www.asmd.es)","name":"Niemann-Pick type B and type A (acid sphingomyelinase deficiency)"},"ataxia-spg7":{"description":"The sequencing of SPG7 in next-generation sequencing panels has further identified cases of spastic ataxia carrying compound heterozygous variants, supporting that SPG7 may be one of the most common forms of recessive ataxias worldwide. Thus, a growing number of studies indicate that SPG7 should be considered in the differential diagnosis of recessive cerebellar ataxia. [Pfeffer et al 2015](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371411/), [Synofzik & Schule 2017](https://www.ncbi.nlm.nih.gov/pubmed/28195350).\n\n*This form of Ataxia has not been added to Orphanet yet*","name":"SPG7-related ataxia"},"atic-gene":{"description":"A severe inborn error of purine biosynthesis characterized clinically in the initial reported case by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness. A second case has exhibited epilepsy and intellectual deficit without other dysmorphic features to date. Source: Orphanet","name":"ATIC Deficiency / AICA Ribosiduria"},"atypical-hemolytic-uremic-syn":{"description":"Atypical Hemolytic Uremic Syndrome (aHUS) is a thrombotic microangiopathy (TMA) resulting from dysregulation of the Complement System.","name":"Atypical Hemolytic Uremic Syndrome"},"au-kline-syndrome":{"description":"Au-Kline syndrome is a condition characterized by intellectual disability, facial dysmorphism, cardiac defects, renal malformation, and connective tissue and skeletal abnormalities. Dysmorphic features include long palpebral fissures, ptosis, a broad prominent nasal bridge, an open downturned mouth, abnormal ears, and high palate. Some patients can have craniosynostosis and/or unique tongue with a prominent median crease. Hypotonia, hyporeflexia, and autonomic dysfunction are additional features. Au-Kline syndrome is caused by variants in the heterogeneous nuclear ribonucleoprotein K gene (HNRNPK)","name":"Au-Kline syndrome"},"auto-brewery-syndrome":{"description":"Auto-brewery syndrome or gut fermentation syndrome is a condition in which ethanol is produced through endogenous fermentation by fungi or bacteria in the gastrointestinal (GI) system. Patients with auto-brewery syndrome present with many of the signs and symptoms of alcohol intoxication while denying an intake of alcohol. [Source](https://www.ncbi.nlm.nih.gov/books/NBK513346/)","name":"Auto-brewery syndrome"},"autoimmune-lymphoproliferative-syndrome":{"description":"Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome, is a form of lymphoproliferative disorder (LPDs). It affects lymphocyte apoptosis.","name":"Autoimmune lymphoproliferative syndrome"},"axenfeld-syndrome":{"description":"Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced Schwalbe’s line and iris bands extending into the cornea. In contrast, Rieger’s anomaly (see this term) includes characteristic iris and pupil anomalies. Source: Orphanet","name":"Axenfeld syndrome"},"barth-syndrome":{"description":"Barth syndrome (BTHS) is caused by mutations in the tafazzin gene.  The primary characteristics of Barth syndrome include cardiomyopathy, hypotonia, growth problems, fatigue and neutropenia. The severity of the disease is highly variable. Women who possess a defective tafazzin gene are usually asymptomatic carriers due to skewed inactivation. However, females with extreme skewing have been reported to be symptomatic.  The Barth Syndrome Foundation is the only worldwide organization dedicated to saving lives through education, advances in treatment, and finding a cure for Barth syndrome (BTHS).  [+INFO](https://www.barthsyndrome.org/)","name":"Barth syndrome"},"bbis":{"description":"Beaulieu-Boycott-Innes syndrome (BBIS) is an autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate to severe intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, cryptorchidism in males, submucous cleft palate, and corpus callosum dysgenesis, may also be present. Beaulieu-Boycott-Innes syndrome (BBIS) is caused by homozygous or compound heterozygous mutation in the THOC6 gene. Source: [OMIM](https://www.omim.org/entry/613680) ","name":"Beaulieu-Boycott-Innes syndrome"},"behcet-s-syndrome":{"description":"Behçet’s Syndrome is a chronic, rare condition caused by disturbances in the body’s immune system.\n\nSource: Participating patient organizations visible below","name":"Behcet’s Syndrome"},"blue-cone-monochromatism":{"description":"Blue cone monochromatism (BCM) is a recessive X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia.\n\nSource: patient organisation participating in this community","name":"Blue cone monochromatism (BCM) "},"bpdcn":{"description":"Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, clinically aggressive hematologic malignancy that most commonly manifests as cutaneous lesions with or without bone marrow involvement and leukemic dissemination. [Source](https://www.uptodate.com/contents/blastic-plasmacytoid-dendritic-cell-neoplasm)","name":"Blastic plasmacytoid dendritic cell neoplasm"},"brown-vialetto-van-laere-syndrome":{"description":"**Brown-Vialetto-Van Laere syndrome has recently been renamed to Riboflavin Transporter Deficiency (RTD).**  \n\nRiboflavin Transporter Deficiency (RTD) is a disorder characterized by nerve problems, particularly hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss). The age at which this condition begins varies from infancy to young adulthood. When RTD begins in infancy, the first symptom is often breathing problems caused by nerve damage. When the condition begins in children or young adults, sensorineural hearing loss usually occurs first, followed by signs of other nerve problems.\n\nSource BVVL.co.uk","name":"Riboflavin Transporter Deficiency (RTD)"},"cacna1c-mutation":{"description":"This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, mutation of the CACNA1C gene has been found to be associated with Timothy syndrome, patients which all also fall under the category of ASD. In addition, several studies have shown a genetic association between the CACNA1C gene and schizophrenia as well as bipolar disorder. This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Source: [OMIM](https://www.omim.org/entry/114205)","name":"CACNA1C mutation"},"caps":{"description":"Cryopyrinopathies (CAPS) are a group of rare autoinflammatory diseases that includes familial cold autoinflammatory syndrome, Muckle–Wells syndrome and chronic infantile neurologic cutaneous articular syndrome (also termed neonatal-onset multisystemic inflammatory disease). These syndromes were initially considered to be distinct disease entities despite some clinical similarities; however, mutations of the same gene have since been found in all three cryopyrinopathies. These diseases, therefore, are not separate but represent a continuum of subphenotypes. The gene in question, CIAS1 (now renamed NLRP3) encodes NALP3 (also known as cryopyrin). NALP3 is an important mediator of inflammation and interleukin 1β processing. New therapies based on biologic agents that specifically target interleukin 1β are currently being developed. These new agents have provided very encouraging results for patients with these long-lasting inflammatory conditions—which used to be considered refractory to treatment. The development of therapeutic options for these cryopyrinopathies illustrates effective translation of basic science to clinical practice and the convergence of human genetics and targeted therapies.","name":"Cryopyrin Associated Periodic Syndromes"},"castleman-disease":{"description":"Castleman Disease (CD) is a rare and poorly-understood inflammatory disorder that occurs in people of all ages, causes lymph node enlargement, and can result in multiple-organ dysfunction. CD can occur in a single lymph node (Unicentric CD) or multiple lymph nodes (Multicentric CD).\n\nSource: CDCN","name":"Castleman Disease"},"cavernous-angioma":{"description":"Cavernous angioma is a rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. Source: [Orphanet](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=18935)","name":"Cavernous angioma"},"cdg":{"description":"Congenital Disorders of Glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndrome, are a group of very rare inherited metabolic disorders that affect a process called glycosylation.\n\nSource: Participating patient organizations visible below","name":"Congenital Disorders of Glycosylation"},"central-serous-chorioretinopathy":{"description":"Central serous chorioretinopathy, commonly referred to as CSC, is a condition in which fluid accumulates under the retina, causing a serous (fluid-filled) detachment and vision loss.\n\nCSC most often occurs in young and middle-aged adults. For unknown reasons, men develop this condition more commonly than women. Vision loss is usually temporary but sometimes can become chronic or recur.","name":"Central serous chorioretinopathy"},"choroideremia":{"description":"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.","name":"Choroideremia"},"chromosome-11-disorders":{"description":"The European Chromosome 11 Network is a support group for patients with anomalies on the chromosome 11, their families and relatives. We have about 100 member families from all over Europe.\n\nOur offers:\n\n- Assistance and support to families and patients\n- We give them the possibility to find contacts\n- In addition to that, every member gets a regular newsletter and information from our website\n- Every other year we organize a European Conference for families and researchers. This event is our major platform to exchange information and experiences. The results of the conference are published\n- We support research on chromosome 11","name":"Chromosome 11 disorders"},"chromosome-18-abnormalities":{"description":"The chromosome 18 conditions are a collection of conditions caused by missing or duplicated segments of chromosome 18\\. These segments can be different sizes and from different locations of the chromosome. Consequently, those affected can have from mild to profound disabilities. Common challenges include learning disability, hearing or vision impairment, autism, heart disease, autoimmune disorders or neuromuscular disorders. We group these chromosome changes in to five clusters, 18p- (a missing piece of the chromosome short arm), 18q- (a missing piece of the chromosome long arm), Tetrasomy 18p (4 copies of the chromosome short arm), Ring 18 (one copy of the chromosome is ring shaped) and Trisomy 18 (3 copies of chromosome 18).","name":"Chromosome 18 abnormalities"},"chronic-recurrent-multifocal-osteomyelitis":{"description":"Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine.","name":"Chronic Recurrent Multifocal Osteomyelitis"},"coats-disease":{"description":"Coats disease, also known as Coats' Retinitis, Coats' Syndrome, Exudative Retinitis, and Retinal Telangiectasis, is an idiopathic disorder characterized by an abnormal development of retinal vessels (telangiectasia) with a progressive deposition of intraretinal or subretinal exudates, potentially leading to exudative retinal detachment. \n\nSource: Orphanet","name":"Coats Disease"},"cobb-syndrome":{"description":"Cobb syndrome, also known as cutaneomeningospinal angiomatosis, is a rare congenital disorder characterized by visible skin lesions with underlying spinal angiomas or arteriovenous malformations.\n\nSource: Orphanet","name":"Cobb syndrome"},"coffin-siris-syndrome":{"description":"Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. Source: [Orphanet](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=321)","name":"Coffin-Siris syndrome"},"common-variable-immune-deficiency-cvid":{"description":"Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the gastrointestinal tract, which can cause diarrhea and weight loss. \nSource: [NIH](https://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency)","name":"Common variable immune deficiency (CVID)"},"cone-rod-dystrophies":{"description":"Cone-rod dystrophies (CRDs) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). In contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. Initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia).\n\nSource: GARD","name":"Cone-rod dystrophies"},"costello-syndrome":{"description":"Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Source: [Orphanet](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=574)","name":"Costello syndrome"},"cryoglobulinemia":{"description":"Cryoglobulinemia is a disease defined by the presence of cryoglobulins; which are proteins (also called immunoglobulins or antibodies) that become thick in cold temperatures. This process can restrict blood flow causing damage (vasculitis) to: skin, joints, muscles, nerves and/or organs. \n\nSource: Participating patient organizations visible below","name":"Cryoglobulinemia"},"ctnnb1":{"description":"Mutations in CTNNB1 gene is described to cause CTNNB1 Haploinsufficiency Syndrome. It is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.","name":"CTNNB1 – Haploinsufficiency Syndrome"},"cutis-marmorata-telangiectatica-congenita":{"description":"CMTC is a condition in which dilated blood vessels can be seen through the skin. \"Cutis marmorata\" means marbled skin. \"Telangiectatica\" refers to abnormal blood vessels and \"congenita\" to its congenital nature.\n\nSource: CMTC-OVM","name":"Cutis marmorata telangiectatica congenita"},"cystinosis":{"description":"Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.\n\nSource: Participating patient organizations visible below","name":"Cystinosis"},"dentatorubral-pallidoluysian-atrophy":{"description":"Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. Source: [Orphanet](http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=101)","name":"Dentatorubral pallidoluysian atrophy (DRPLA)"},"dessh":{"description":"DeSanto Shinawi Syndrome is a rare and newly discovered genetic disorder characterized by a mutation of the WAC gene. Patients exhibit dysmorphic features including broad or prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. (this description can be edited anytime). [Source](https://www.dessh.org/about)","name":"DeSanto-Shinawi Syndrome (DESSH)"},"dlg4":{"description":"Mutations in DLG4 gene are described to cause DLG4 – Related Disorder. DLG4-Related Disorder is a rare, genetic condition that has been associated with intellectual disability and autism spectrum disorder in a few individuals in 2016. Three additional affected individuals were reported in 2018 and they presented with mild to moderate intellectual disability, autism spectrum disorder, some minor cerebral malformations, seizures, and ocular anomalies (nystagmus, strabismus, and optic disc pallor) (Moutton et al, 2018, PMID 29460436). These individuals were also described as having marfanoid features, specifically the skeletal anomalies that can be seen with Marfan Syndrome, such as arachnodactyly, scoliosis, pectus deformity and joint hypermobility (Moutton et al, 2018, PMID 29460436).","name":"DLG4-Related Disorder"},"down-syndrome":{"description":"Down Syndrome is a genetic condition where individuals affected have an extra chromosome, and specifically they have 3 copies of chromosome 21\\. The most diffuse form of Down Syndrome is also known as trisomy 21.","name":"Down Syndrome"},"dravet-syndrome":{"description":"Dravet Syndrome is one of the most catastrophic epilepsies and is a rare neurological condition causing severe, difficult to control seizures alongside developmental delay. \n\nSource: Participating patient organizations visible below","name":"Dravet Syndrome"},"dyggve-melchior-clausen-syndrome":{"description":"Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic condition characterized by abnormal skeletal development, microcephaly, and intellectual disability. Only about 100 cases have been reported to date. Skeletal abnormalities may include a barrel-shaped chest with a short trunk, partial dislocation of the hips, knock knees, bowlegs, and decreased joint mobility. A small number of affected individuals experience instability in the upper neck vertebrae that can lead to spinal cord compression, weakness and paralysis. Normally, there is growth deficiency resulting in short stature. DMC is caused by mutations in the DYM gene and is inherited in an autosomal recessive manner. Some researchers have described an X-linked pattern of inheritance, which has not been confirmed to date. \n\nSource: [NIH](https://rarediseases.info.nih.gov/diseases/6295/dyggve-melchior-clausen-syndrome)","name":"Dyggve-Melchior-Clausen syndrome (DMC)"},"dysnet":{"description":"Dysmelia is the generic term for all types of congenital limb differences - genetic, environmentally-induced or caused by an isolated fetal development problem. It is a rare condition with varying degrees and types of congenital limb damage and affects about 5 people in every 10,000.\n\nSource: Participating patient organizations visible below","name":"DysNet"},"ectodermal-dysplasia":{"description":"The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.  \n\nSource: [Orphanet](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11399&Disease_Disease_Search_diseaseGroup=Ectodermal-dysplasia)","name":"Ectodermal Dysplasia"},"eec-syndrome":{"description":"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).\n\nThe three cardinal signs of the syndrome are ectrodactyly and syndactyly of the hands and feet, cleft lip with or without cleft palate (that can result in speech defects), and abnormalities in several ectodermal structures including skin (i.e. hypopigmentated and dry skin, hyperkeratosis, skin atrophy), hair (i.e. fine and sparse hair and eyebrows), teeth (small, absent or dysplastic teeth), nails (nail dystrophy) and exocrine glands (reduction/absence of sweat, sebaceous and salivary glands).  \n\n_Source: Orphanet._","name":"EEC syndrome"},"ehlers-danlos-syndrome":{"description":"Ehlers-Danlos syndrome (EDS) is a genetic connective tissue disorder characterized by joint hypermobility, skin hyper extensibility and abnormal wound healing.\n\nSource: Participating patient organizations visible below","name":"Ehlers-Danlos Syndrome"},"epidermolysis-bullosa":{"description":"Epidermolysis Bullosa (EB) is a group of rare, inherited disorders that affect skin and mucous membranes. The clinical picture ranges from mild to severe. Below, you'll find testimonies from patients who live with this genetic disease.\n\nSource: Participating patient organizations visible below","name":"Epidermolysis Bullosa"},"erdheim-chester-disease":{"description":"Erdheim-Chester Disease is an ultra-rare non-Langerhans cell histiocytosis that can affect many different organs of the body. ECD is classified as a blood cancer or histiocytic neoplasm.\n\nSource: ECD Global Alliance","name":"Erdheim-Chester Disease"},"evans-syndrome":{"description":"Evans syndrome is rare autoimmune disorder defined by the combination (either concurrently or sequentially) of an attack on two or more lines of blood, including red blood cells (Autoimmune Hemolytic Anemia), platelets (Ideopathic Thrombocytopenia or ITP), and white blood cells. \n\nSource: Participating patient organizations visible below","name":"Evans Syndrome"},"extramammary-paget-disease":{"description":"Extramammary Paget’s disease (EMPD) is a rare skin cancer that can appear around the genitals, anus, perineum, groin or arm pit areas in women and men. EMPD has similarities to Paget’s breast cancer. Since EMPD is so rare, it is often difficult to find a physician that is familiar with the disease. Further, EMPD symptoms often mimic other conditions slowing diagnosis. EMPD begins as an in situ carcinoma in the epidermis and may progress to invade the dermis, increasing the chances of underlying malignancies. Source: [My EMPD](https://www.myempd.com/about/)\n","name":"Extramammary Paget’s disease (EMPD)"},"extrasceletal-myxoid-chondrosarcoma":{"description":"Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components. Source: [OMIM](https://www.omim.org/entry/612237)","name":"Extraskeletal myxoid chondrosarcoma"},"fam1777a1":{"description":"Mutations in the FAM177A1 gene cause global developmental delay, intellectual disability, autistic behaviors, macrocephaly (large head size), axial hypotonia (low muscle tone), hyperreflexia (over-active reflexes), gait abnormality (unusual walking pattern), congenital bilateral cataracts and seizures.","name":"FAM177A1 gene"},"familial-mediterranean-fever":{"description":"Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder.\n\nSource: Participating patient organizations visible below","name":"Familial Mediterranean Fever"},"fetal-anticonvulsant-syndromes":{"description":"The AntiConvulsant Syndromes are caused when AntiEpileptic medications affect the Fetus used during pregnancy.\n\nAntiConvulsant medication is used not only for epilepsy, but migraine, pain, mental health problems and bipolar disorder.  \n\nFetal AntiConvulsant Syndromes or FACS for short, is a complex syndrome with a number of disabilities; ranging from Congenital abnormalities, called malformations, are conditions that are present at birth (congenital). There are numerous variations of congenital malformations of the bone and soft tissue of the head and spine, including neural tube defects such as spina bifida and heart. Cognitive (Cognitive delay usually refers to a developmental delays. That means that an individuals cognitive abilities do not match the expectations of other children of the same age group) problems such as autism, dyslexia etc. communication problems such as language delay and mental health problems and low IQ. If one child has FACS within a family unit, then there will be a 55% likelihood that other siblings will be too.  \n\n_Source: Patient groups listed below_","name":"Fetal AntiConvulsant Syndromes"},"fibrodysplasia-ossificans-progressiva":{"description":"Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. Source: Orphanet","name":"Fibrodysplasia ossificans progressiva (FOP)"},"fibromuscular-dysplasia":{"description":"Fibromuscular dysplasia (FMD) is a disease of the artery wall, without atherosclerosis (cholesterol deposits) or inflammation present. Sometimes this can lead to an arterial stenosis (narrowing), a dilation (aneurysm) or a dissection (tear) of the affected artery. A stenosis or a dissection can be responsible for a reduction in arterial blood flow. The effect of this reduced blood flow depends on the location of the arteries involved.","name":"Fibromuscular Dysplasia"},"fibrosing-mediastinitis":{"description":"Fibrosing mediastinitis is a condition that affects the area between the lungs (mediastinum) which contains the heart, large blood vessels, windpipe (trachea), esophagus, and lymph nodes. People with fibrosing mediastinitis have varying amounts of scar tissue in the mediastinum which may cause problems for the organs located there.\n\nSource: NIH","name":"Fibrosing Mediastinitis (FM)"},"focd":{"description":"Familial osteochondritis dissecans (FOCD) is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. [Source](https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=251262)","name":"Familial osteochondritis dissecans"},"foxg1-syndrome":{"description":"FOXG1 Syndrome is a rare neuro-developmental disorder caused by a mutation of the FOXG1 gene, which impacts brain development and function. This severe condition is characterized by seizures, inability to control body movements, and lack of speech. While the spectrum of abilities is quite broad depending on the exact genetic mutation, many of our children cannot walk or talk, and they struggle to communicate their most basic daily needs. It is possible for parents to be carriers, but most cases of FOXG1 are non-inherited and have no family history. Source: http://www.foxg1.org/","name":"FOXG1 Syndrome"},"foxp1":{"description":"FOXP1 (forkhead box P1) is a gene located on chromosome 3 that everybody carries and is important for the normal functioning of the body. The FOXP1 gene is translated (transcribed) into FOXP1-RNA and then into the FOXP1-protein which carries out the normal body functions of the gene. The FOXP1 gene is a member of a family of transcription factors that control the levels of proteins important for normal development of the embryo before birth and the immune and neurological systems after birth. \n\n[Read more](https://www.rareconnect.org/en/posts/56567a60-f62d-43af-8862-9c11dee6662f)","name":"FOXP1"},"foxp2":{"description":"FOXP2-related speech and language disorder is a condition that affects the development of speech and language starting in early childhood. Affected individuals have a speech problem known as childhood apraxia of speech, which makes it difficult to produce sequences of sounds, syllables, and words. This condition results from abnormalities involving parts of the brain that plan and coordinate movements of the lips, mouth, and tongue. Children with childhood apraxia of speech typically say their first words later than other children. Their speech is often difficult to understand, although the clarity of speech improves somewhat over time. Some affected individuals also cannot cough, sneeze, or clear their throats.  In addition to having problems with producing speech (expressive language), people with FOXP2-related speech and language disorder may have difficulty with understanding speech (receptive language). Source: [NIH](https://ghr.nlm.nih.gov/condition/foxp2-related-speech-and-language-disorder)","name":"FOXP2"},"frontotemporal-dementia":{"description":"FTD is the most common form of dementia for people under age 60. It represents a group of brain disorders caused by degeneration of the frontal and/or temporal lobes of the brain. FTD is also frequently referred to as frontotemporal dementia, frontotemporal lobar degeneration (FTLD), or Pick’s disease. [Source](https://www.theaftd.org/what-is-ftd/disease-overview/)","name":"Frontotemporal dementia (FTD)"},"fxpoi":{"description":"Fragile X associated primary ovarian insufficiency (FXPOI) is a condition in which the ovaries are not functioning to full capacity in a woman who carries a premutation in the FMR1 gene.  FXPOI is a chronic disorder characterized by irregular or absent menstrual periods and elevated FSH levels in the blood before age 40 years. There may be significant health challenges to women who have FXPOI such as: (1) depression and anxiety related to the loss of reproductive hormones and infertility; (2) reduced bone mineral density; and (3) increased risk of cardiovascular disease-related to estrogen deficiency.","name":"Fragile X associated primary ovarian insufficiency"},"gain-of-function-cacna1g-mutation":{"description":"Children affected by de novo and gain of function CACNA1G mutation* display severe motor and cognitive impairment, childhood-onset cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy.\n\n- Definition of de novo: A genetic alteration that is present for the first time in one family member but is not found in his/her progenitors' cells.\n\n- *Definition of gain of function: Although most mutations deteriorate the protein functions, Gain-of-function mutations confer new or enhanced activity on a protein.","name":"Gain of function CACNA1G mutation"},"gaucher-disease":{"description":"Gaucher Disease is an autosomal recessive disease and the most common Lysosomal Storage Disorder, with an incidence of about 1 in 100,000 live births. It is caused by deficiency of a specific enzyme (glucocerebrosidase) in the body, caused by a genetic mutation received from both parents (autosomal recessive inheritance). This leads to an accumulation of the enzyme's substrate, glucocerebroside, which results in it being stored in the spleen, liver, kidneys, lungs, brain and bone marrow. Each disease course can be variable, ranging from no outward symptoms to severe disability and death.\n\nTypes of Gaucher Disease\n\n**Type I**, the most common, also called the 'non-neuropathic' type is characterised by the problems listed above. This is often called the adult form, although the cause is present from the time of conception. The median age at diagnosis is 28 years of age, and life expectancy is mildly decreased. In most cases there are no essential neurological symptoms.  \n**Type II**, also called acute neuronopathic Gaucher disease, is very rare and characterised by rapidly progressive neurological problems in babies. Formerly called infantile Gaucher disease, Type 2 is described by severe neurological involvement in the first year of life. Fewer than 1 in 100,000 newborns have Type 2 disease. Prognosis is dismal: An afflicted child usually does not live past the age of 2 years, due to the severe involvement of the nervous system.  \n**Type III**, also called neuronopathic Gaucher disease is also very rare but differing from Type II, it is characterized by slowly progressive neurologic symptoms. The signs and symptoms of Type 3 Gaucher disease appear later in childhood than the symptoms of Type 2 Gaucher Disease.  \nRead more on Gaucher disease on the EGA web site: https://www.eurogaucher.org/gb/information/about_gaucher  \n\n**Source: European Gaucher Alliance**","name":"Gaucher disease"},"gerstmann-syndrome":{"description":"Gertsmann's syndrome is a cognitive impairment that results from damage to a specific area of the brain -- the left parietal lobe in the region of the angular gyrus. It may occur after a stroke or in association with damage to the parietal lobe. It is characterized by four primary symptoms:\n\n1. a writing disability (agraphia or dysgraphia),\n2. a lack of understanding of the rules for calculation or arithmetic (acalculia or dyscalculia),\n3. an inability to distinguish right from left,\n4. and an inability to identify fingers (finger agnosia). \n\nThe disorder should not be confused with Gerstmann-Sträussler-Scheinker disease, a type of transmissible spongiform encephalopathy. \n\nIn addition to exhibiting the above symptoms, many adults also experience aphasia, (difficulty in expressing oneself when speaking, in understanding speech, or in reading and writing).\n\nSource: NIH","name":"Gerstmann's syndrome"},"glut1-ds":{"description":"Glucose transporter type 1 deficiency syndrome (Glut1-DS) is a rare neuro-metabollic disease, characterized by infantile seizures refractory to anticonvulsants, followed by deceleration of head growth, delays in mental and motor development, spasticity, ataxia, dysarthria, opsoclonus, and other paroxysmal neurologic phenomena. Below you will find stories of patients that live with this rare disease.","name":"Glut1 DS"},"glutaric-aciduria-type-1":{"description":"Glutaric aciduria type I or Glutaric acidemia type I is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur. The severity of glutaric acidemia type I varies widely; some individuals are only mildly affected, while others have severe problems. In most cases, signs and symptoms first occur in infancy or early childhood, but in a small number of affected individuals, the disorder first becomes apparent in adolescence or adulthood. Source: [NIH](https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i)","name":"Glutaric aciduria type I"},"glycogen-storage-disease-types-1-and-3":{"description":"Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. This community is mainly for the most frequent types: type 1 and 3. \n\nSource: participating patient organizations visible below","name":"Glycogen storage disease types 1 and 3"},"gne-myopathy":{"description":"GNE myopathy is an inherited muscle condition where GNE is an abbreviation for the mutated gene (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase). GNE myopathy leads to weakness and wasting of muscles in legs and arms. First symptoms usually occur in young adults (usually in the third decade of life), but a later onset has also been observed in some patients. Initially, increased tripping and a steppage gait are often noted because of foot drop. The condition gets worse slowly, and also leads to weakness of proximal leg muscles with difficulties climbing stairs or getting up from sitting, and weakness of the hands and shoulder muscles.\nSource: patient organisation participating in this community","name":"GNE myopathy"},"guillain-barre-syndrome-and-chronic-inflammatory-demyelinating-polyneuropathy":{"description":"The rare diseases Guillain Barré Syndrom (GBS) and the Chronic Imflammatory Demyelizing Neuropathy (CIDP), as well as the different variants, are autoimmune inflammatory diseases of the peripheral nervous sytem. Through an attack on the Immune System they inflame the nerve cells. As a result, those affected suffer from movement disorders, numbness, or even severe neuralgia. There is also the danger of paralysis of the breathing muscles and cardiac rhythm disorders.","name":"Guillain-Barre syndrome and chronic inflammatory demyelinating polyneuropathy"},"gyrate-atrophy":{"description":"Gyrate atrophy is believed to be caused by faults in the OAT gene. If you have this condition, your body cannot produce ornithine aminotransferase at all, or you may only be able to produce it in small quantities. This can thereby result in an increased amount of ornithine in the blood. This can also halt production of P5C due to a lack of functioning ornithine aminotransferase. It is also believed that the gene defect plays a role in reducing the amount of creatine that is produced. Creatine is a molecule which is stored as energy in muscles and is utilised by the muscles and the nervous system when muscles are contracted. Currently, it is not fully understood how this condition affects the way our body uses creatine. Source: Metabolic Support UK\n\n**What else is it called?**\n- HOGA\n- Hyperornithinemia with gyrate atrophy of choroid and retina\n- OAT deficiency\n- OKT deficiency\n- Ornithine aminotransferase deficiency\n- Ornithine-delta-aminotransferase deficiency\n- Ornithine keto acid aminotransferase deficiency\n- Ornithinemia with gyrate atrophy","name":"Gyrate atrophy"},"hdfn":{"description":"Maternal alloimmunization occurs when a woman makes red blood cell antibodies as a result of foreign blood mixing. These antibodies can cross the placenta and attack the unborn child, a disease called hemolytic disease of the fetus and newborn (HDFN). HDFN can have devastating consequences including anemia, hyperbilirubinemia, and death. With close monitoring and timely treatment, babies with HDFN have a very high survival rate. Unfortunately, due to the rarity of alloimmunization and the variation in care practices around the world, well-managed pregnancies and ideal infant outcomes are not universal - but they can be! - [Source: Allo Hope Foundation] \n\nSynonym: Hemolytic disease due to fetomaternal alloimmunization","name":"Hemolytic disease of the fetus and newborn"},"hemiconvulsion-hemiplegia-epilepsy-syndrome":{"description":"Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE) is a neurological disorder, which presents itself as a febrile illness at the onset. Fevers and convulsions are only reduced/stopped via medications. The patient is left with a resulting hemiplegia from the affected hemisphere. MRI and EEG tests show a resulting acute atrophy of one hemisphere of the brain - of which will depend on the severity of the hemiplegia.","name":"Hemiconvulsion-hemiplegia-epilepsy syndrome"},"hemihyperplasia":{"description":"Hemihypertrophy is a condition in which there is excessive (hyper) growth (trophy) of only one side (hemi) of the body, the right side or the left side. Overgrowth may affect only one part of the body, such as a leg or arm, or several different areas of the body. It may not be apparent at birth, but becomes most noticeable as the child grows. Hemihypertrophy can be isolated or may be part of a genetic syndrome, like Beckwith-Wiedemann syndrome.\n\nOther Names: Hemihyperplasia\n\nSource: [NIH](https://rarediseases.info.nih.gov/diseases/12089/hemihypertrophy)","name":"Hemihypertrophy (Hemihyperplasia)"},"hereditary-angioedema":{"description":"Hereditary angioedema arises from a dysregulation in the synthesis of bradykinin, a protein that can increase vascular permeability very rapidly. For this reason, patients are affected by swellings that are absolutely unpredictable and occur with a frequency that varies a lot from person to person. Such swellings may affect the face, the upper airways (risk of asphyxia) and the intestinal tract (very painful abdominal attacks).\n\nSource: Laurence Bouillet, MD, PhD.","name":"Hereditary angioedema"},"hereditary-leiomyomatosis-and-renal-cell-cancer":{"description":"Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Reed’s Syndrome is one of several rare familial syndromes involving kidney cancer and is caused by mutations in the Fumarate Hydratase (FH) Gene. The key symptoms of which only some MAY occur are (i) Cutaneous Piloleiomyomas (Skin Lumps) (ii) Uterine Leiomyomas (Fibroids) (iii) Papillary Type 2 or Collecting Duct Renal Cell Carcinoma (RCC is Kidney Cancer). Fumarase Deficiency or fumaric aciduria is an associated ultra-rare condition caused normally by both parents having mutations in the Fumarate Hydratase (FH) Gene.\n\nSource: Participating patient organizations visible below","name":"Hereditary Leiomyomatosis and Renal Cell Cancer"},"hereditary-rickets":{"description":"Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B). The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets) due to impairment in renal tubular phosphate reabsorption. [Source](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790329/)","name":"Hereditary rickets"},"hereditary-sensory-and-autonomic-neuropathies":{"description":"The hereditary sensory and autonomic neuropathies (HSAN) encompass a number of inherited disorders that are associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception) and varying degrees of autonomic dysfunction (gastroesophageal reflux, postural hypotention, excessive sweating).","name":"Hereditary Sensory and Autonomic Neuropathies"},"hereditary-spastic-paraplegia":{"description":"Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders. Their primary symptoms are progressive spasticity and weakness of the leg and hip muscles. The condition is characterized by insidiously progressive lower extremity weakness and spasticity.\n\nSource: Participating patient organizations visible below","name":"Hereditary Spastic Paraplegia"},"hht":{"description":"Hereditary hemorrhagic telangiectasia (HHT or Osler-Weber-Rendu syndrome) is an inherited disorder characterized by malformations of various blood vessels (vascular dysplasia), potentially resulting in bleeding (hemorrhaging). Chronic nosebleeds are often the first sign and malformation of various blood vessels may result in abnormalities affecting the lungs, brain, spinal cord, and liver. A variety of treatments exist for the various features of HHT to improve quality of life and prevent life-threatening complications. Individuals with HHT have a near-normal life expectancy. HHT is inherited as an autosomal dominant trait.\r\n\r\nSource: NORD","name":"Hereditary Hemorrhagic Telangiectasia (HHT)"},"hunter-syndrome":{"description":"Hunter Syndrome or Mucopolysaccharidosis type 2 (MPS2) is a lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. Source: Orphanet","name":"Hunter Syndrome"},"hypophosphatasia":{"description":"Hypophosphatasia (hypo-fahs-fuh-tay-shuh) or HPP is an inherited (genetic) metabolic bone condition that most often affects the development of bones and teeth. The signs and symptoms vary widely, with mild cases causing only dental abnormalities while the more severe types have life-threatening consequences. The hallmark of the disorder is bones that become soft or weakened, causing skeletal deformities, fractures, premature tooth loss and pain.","name":"Hypophosphatasia"},"ichthyosis":{"description":"Ichthyosis is a heterogeneous family of severe and persistently dry and scaling skin conditions which is mostly inherited. Unlike other and more well-known skin conditions, all of the skin is affected. \n\nFonte: Ichthyosis Support Group","name":"Ichthyosis"},"idiopathic-pulmonary-fibrosis":{"description":"Pulmonary fibrosis isn’t just one disease. It is a family of more than 200 different lung diseases that all look very much alike. The PF family of lung diseases falls into an even larger group of diseases called the interstitial lung diseases (also known as ILD), which includes all of the diseases that have inflammation and/or scarring in the lung. Some interstitial lung diseases don’t include scar tissue. When an interstitial lung disease does include scar tissue in the lung, we call it pulmonary fibrosis. [Source](https://www.pulmonaryfibrosis.org/life-with-pf/about-pf)","name":"Pulmonary Fibrosis"},"ipaf":{"description":"Interstitial pneumonia with autoimmune features (IPAF) is a term to describe individuals with both interstitial lung disease (ILD) and combinations of other clinical, serologic, and/or pulmonary morphologic features, which presumably originate from an underlying systemic autoimmune condition, but do not meet current rheumatologic criteria for a defined connective tissue disease (CTD). [Source](https://journals.viamedica.pl/advances_in_respiratory_medicine/article/view/ARM.2017.0009/37395)","name":"Interstitial pneumonia with autoimmune features (IPAF)"},"isaac-syndrome":{"description":"Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. Source: Orphanet","name":"Isaac Syndrome"},"ito-raymond-syndrome":{"description":"Ito-Raymond Syndrome is a rare form of intellectual disability caused by de novo truncating mutations in the WASF1 gene (OMIM 618707). Individuals with Ito-Raymond Syndrome have intellectual disability, autistic features, seizures, speech and motor delays, and other congenital differences.[OMIM](https://www.omim.org/entry/618707)","name":"Ito-Raymond Syndrome"},"kallmann-syndrome":{"description":"Congenital hypogonadotropic hypogonadism (CHH) is caused by deficient production, secretion or action of gonadotropin-releasing hormone (GnRH).\n\nCHH is characterized by incomplete or absent puberty and infertility in the setting of isolated hypogonadotropic hypogonadism (that is, otherwise normal anterior pituitary function). \n\nCHH can present solely as congenital GnRH deficiency or be associated with other developmental anomalies such as cleft lip or palate, dental agenesis, ear anomalies, congenital hearing impairment, renal agenesis, bimanual synkinesis or skeletal anomalies. \n\nWhen associated with anosmia (lack of sense of smell) or hyposmia, CHH is termed Kallmann syndrome. [Source](https://www.nature.com/articles/nrendo.2015.112)","name":"Kallmann syndrome"},"kat6a-syndrome":{"description":"Mutations in KAT6A gene have been described to cause KAT6A Syndrome. KAT6A Syndrome is a rare genetic condition characterized by developmental delay, feeding difficulties, constipation, speech and language delay, intellectual disability, hypotonia, and vision abnormalities. The presentation of KAT64 varies, however people with this syndrome have a variety of overlapping features and may present with additional traits. There are about 200 individuals around the world diagnosed with KAT6A Syndrome. Source: [KAT6A Foundation](https://www.kat6a.org/about-kat6a/)","name":"KAT6A syndrome"},"kat6b":{"description":"KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. GPS and SBBYSS are caused my mutations in the KAT6B gene. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype. (Lemire, G., Campeau, P.M. et. al 2020. Gene Reviews)","name":"KAT6B-Related Disorder"},"kbg-syndrome":{"description":"KBG Syndrome is caused by a mutation in the ANKRD11 gene at location 16q.24.3 which creates a shortening of a scaffolding protein in that region. This short protein may be completely ineffectual or may be somewhat functioning which contributes to the variety and severity of the symptoms. Nearly all patients present with large upper front teeth, bushy eyebrows and triangular faces. The 'KBG appearance' is quite distinctive and is usually the first noticeable trait along with developmental delay and other bone anomalies.  For no known reason, males seem to be more affected than females. Treatment is determined on a case by case basis as symptoms arise. There is no cure, only management. The more patients are identified, the more likely a cure will be found. Source: [KBG Foundation](http://www.kbgfoundation.com)","name":"KBG Syndrome"},"kcnb1":{"description":"Those with a KCNB1 genetic mutation typically suffer encephalopathy, refractory seizures, polyseizure profiles, developmental delay, hypotonia, movement disorders, cognitive impairment and are at higher risk for Long QT and SUDEP (sudden unexpected death due to Epilepsy). Currently, there are only @65 known cases of KCNB1 in the world. Source: kcnb1.org","name":"KCNB1"},"kif5c-mutation":{"description":"Children with KIF5C mutation have subtle malformations of cortical development, early onset epilepsy and significant neurodevelopmental and behavioural issues including absent language. [Source](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687290/)","name":"KIF5C mutation"},"kleefstra-syndrome":{"description":"Kleefstra syndrome (Ks) is a rare genetic disorder characterised by intellectual disability, often accompanied by a spectrum of complex physical and clinical features. The predominant cause of Ks is a tiny piece missing (known as a deletion) from near the end of chromosome 9\\. However individuals with a mutation, or intragenic duplication also carry a Ks diagnosis. The deletion or mutation affects a gene called EHMT1 (Euchromatic Histone Methyltransferase 1) and it's absence or disturbance is believed to cause the major symptoms of the syndrome. The syndrome was officially recognised as Kleefstra syndrome in April 2010\\. Ks has previously been known as 9q34.3 deletion syndrome, 9qSTDS (short for 9q subtelomeric deletion syndrome), 9q-Syndrome, 9q34.3 microdeletion syndrome.\n\nSource: Kleefstrasyndrome.org","name":"Kleefstra syndrome"},"lchadd":{"description":"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. Source: [Orphanet](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3555&MISSING%20CONTENT=Long-chain-3-hydroxyacyl-CoA-dehydrogenase-deficiency&title=Long-chain-3-hydroxyacyl-CoA-dehydrogenase-deficiency&search=Disease_Search_Simple)","name":"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"},"leber-hereditary-optic-neuropathy":{"description":"Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.\n\nSource Orphanet","name":"Leber hereditary optic neuropathy"},"leigh-syndrome":{"description":"Leigh syndrome is a rare genetic neurometabolic disorder that is characterized by the degeneration of the central nervous system. \n\nSource: UMDF","name":"Leigh Syndrome"},"lipodystrophy":{"description":"Lipodystrophy is a disorder where the body’s fatty tissue is attacked, causing a loss of subcutaneous body fat resulting in insulin resistance, diabetes, high triglyceride and cholesterol levels, and sometimes, fatty liver disease. There are numberous forms of lipodystrophy that are genetic or acquired.  \n\n_Source: Patient groups listed below_","name":"Lipodystrophy"},"lipoprotein-lipase-deficiency":{"description":"Lipoprotein lipase deficiency (LPLD) is also known as Type 1 hyperlipoproteinaemia. There are now five identified genes that cause the symptoms of LPLD and these five genes are all named under the umbrella term, familial chylomicronaemia syndrome (FCS).  People with LPLD comprise around 80% of those with FCS.  People with FCS lack the enzyme lipoprotein lipase which breaks down fat, or what enzyme they have doesn't work properly.  If fat is eaten, it travels around the blood as triglycerides, clumping together as chylomicrons, causing the many symptoms of FCS and the milky-white colour of the blood, which is typical of the condition.  Symptoms include abdominal pain, which can be severe, potentially life-threatening pancreatitis and fatigue. Patients are recommended to eat less than 20g fat per day, restrict added sugar and drink no alcohol. This diet is difficult to manage and patients can feel isolated and experience depression.\n\nSource: Participating patient organizations","name":"Lipoprotein Lipase Deficiency"},"liposarcoma":{"description":"Liposarcoma is a rare and slow growing cancer made of cells that resemble fat cells. In most instances, this often asymptomatic cancer occurs in the limbs where it is detectes as a lump. Nonetheless, about 30% of all liposarcoma cases occur in the abdominal cavity, where they are often asymptomatic for a long time. Liposarcomas can be further differentiated into well-differentiated and/or dedifferentiated (~50%), myxoid and/or round cell (~40%) and pleomorphic (10%).","name":"Liposarcoma"},"loose-anagen-syndrome":{"description":"Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma. Source: [Orphanet](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=8569)","name":"Loose anagen syndrome"},"lowe-syndrome":{"description":"Lowe Syndrome (also known as Oculocerebrorenal syndrome, OCRS) is a rare genetic disorder seen in males from early childhood and currently there is no cure. Lowe syndrome severely affects the brain, eyes, kidneys, bones and muscles, leading to physical and mental impairment.\n\nSource: Participating patient organizations visible below","name":"Lowe Syndrome"},"lymphangioleiomyomatosis":{"description":"Lymphangioleiomyomatosis (LAM) is a rare disease that occurs only in women. LAM predominantly affects the lungs, where it causes excessive growth of smooth muscle cells which progressively destroy lung tissue and erode lung function. \n\nSource: LAM Foundation","name":"Lymphangioleiomyomatosis"},"lymphangiomatosis-and-gorham-s-disease":{"description":"Lymphangiomatosis and Gorham’s Disease (LGD) are rare lymphatic malformations affecting organs and bones also known as GLA (Generalized Lymphatic Anomalies) and GSD (Gorham-Stout Disease). GSD is a rare musculoskeletal condition in which spontaneous, progressive resorption of the bone occurs. In medical terminology lymphangiomatosis means: lymphatic system (lymph) vessel (angi) tumor or cyst (oma) condition (tosis). Kaposiform lymphangiomatosis is distinctive from GLA with abnormal spindle-shaped lymphatic cells.There is no standard definition describing this disease that has been agreed to by the medical/scientific community.","name":"Lymphangiomatosis and Gorham's Disease"},"lysosomal-acid-lipase-deficiency":{"description":"Lysosomal acid lipase deficiency (LALD or LAL deficiency) happens when the body does not produce enough active lysosomal acid lipase (LAL or LIPA) enzyme.","name":"Lysosomal acid lipase deficiency"},"malignant-infantile-osteopetrosis":{"description":"Malignant Infantile Osteopetrosis (Miop - autosomal recessive osteopetrosis) is a rare congenital disorder of bone resorption characterised by generalised skeletal densification. Thus OsteoPETROSIS may be considered as the opposite to OsteoPOROSIS, where bone density is decreased. Excessive bone density can interfere with vital tissues and structures, causing serious problems throughout the body. Compression of nerves in the skull, for example, can lead to problems such as vision loss and breathing problems. It can also cause crowding of the bone marrow, which is the tissue inside the bones that produces blood cells and platelets. The specific complications and their severity depend largely on the type of osteopetrosis. Most of the life-threatening severe forms of osteopetrosis can be treated by allogeneic stem cell transplantation.\n\nSource: [Dr. Ansgar Shulz](http://www.uniklinik-ulm.de/struktur/kliniken/kinder-und-jugendmedizin/home/stationen/div/station-7.html)","name":"Malignant Infantile Osteopetrosis"},"marinesco-sjogren-syndrome":{"description":"Marinesco-Sjogren Syndrome (or Marinescu-Sjogren Syndrome) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), juvenile cataracts, generally some degree of cognitive delay, and small stature.  \n\n_Source: Patient groups listed below_","name":"Marinesco-Sjogren Syndrome"},"mastocytosis-and-mast-cell-activation-disorders":{"description":"Mastocytosis is a rare disorder characterized by abnormal accumulations of mast cells in skin, bone marrow, and internal organs such as the liver, spleen and lymph nodes. In the disorders of mast cell activation, mast cells are easily triggered to release their mediators, resulting in many of the same symptoms as systemic mastocytosis.\n\nSource: Participating patient organizations visible below","name":"Mastocytosis and Mast Cell Activation Disorders"},"mcadd":{"description":"MCADD (Medium Chain acyl-CoA dehydrogenase deficiency).  MCADD is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic, hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.  Source: orpha.net","name":"Medium Chain acyl-CoA dehydrogenase deficiency"},"mcm3ap-neuropathy":{"description":"Mutations in the gene MCM3AP cause childhood-onset peripheral neuropathy. This rare neurologic syndrome is progressive and causes distal motor impairment and gait difficulties, often resulting in wheelchair dependency, and in difficulties using proximal limbs. Most affected individuals have impaired intellectual development or learning difficulties, although some have normal cognition. Additional features may include upper motor neuron signs, cerebellar ataxia, eye movement abnormalities, characteristic claw hands and foot deformities, and scoliosis.The inheritance of the disease is autosomal recessive. MCM3AP gene codes for protein GANP, which has an important function in the regulation of gene expression.","name":"MCM3AP neuropathy"},"mef2c-haploinsufficiency-syndrome":{"description":"The mutation or deletion of the MEF2C gene is the cause of a neuro-genetic disorder characterized by severe intellectual and developmental disability, mutations of this gene have resulted in severe psychomotor retardation, periodic tremor and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features, mild thinning of the corpus callosum and delay of white matter myelination in the occipital lobes.","name":"MEF2C Haploinsufficiency Syndrome"},"melkersson-rosenthal-syndrome":{"description":"The Melkersson-Rosenthal syndrome (MRS) is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000\\. The etiology is unknown but hereditary predisposition is suspected.  \nSource: Orphanet","name":"Melkersson-Rosenthal Syndrome"},"mepan-syndrome":{"description":"MEPAN Syndrome is a neurometabolic disorder caused by defective mitochondrial fatty acid synthesis. It presents with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. Affected individuals harbor recessive mutations in the MECR gene, which encodes for the mitochondrial trans-2-enoyl-coenzyme A-reductase enzyme, a key protein in mitochondrial fatty acid synthesis. [Source](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142118/)","name":"MEPAN Syndrome"},"methylmalonic-acidaemia":{"description":"MMA affects the way you break down protein. Many foods contain protein. The body needs protein for growth and repair. Protein is broken down into amino acids (building blocks of protein) by enzymes (which are like chemical scissors). Enzymes then further break the amino acids into smaller parts.\n\nIn MMA, the body lacks an enzyme called methylmalonyl-CoA mutase. This means the body is unable to break down four amino acids (protein). As a result, there is a build-up of a chemical called methylmalonic acid.  This causes too much methylmalonic acid and other chemicals in the blood and urine.\n\nMethylmalonic acid also comes from gut bacteria and the breakdown of fatty acids. The body will use these for energy when it has gone a long time without food. The build-up of harmful chemicals can damage the brain and kidneys and cause problems with other organs. It may cause delays to normal development like walking and talking.\n\nIf the body does not receive enough food e.g. during illness or the body has gone without food for too long, there may be a shortage of energy supply. This causes catabolism which is a break-down of body protein and can lead to a metabolic crisis. Source: Metabolic Support UK","name":"Methylmalonic acidaemia"},"mirage-syndrome":{"description":"MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. \n\nSource: OMIM","name":"MIRAGE syndrome"},"mitochondrial-depletion-syndrome-type-7":{"description":"Mitochondrial depletion syndrome type 7 also known as infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. This condition is characterized by very early ataxia, athetosis and reduced tendon reflexes (between 9 and 18 months of age). Ophthalmoplegia and sensorineural hearing loss are diagnosed in childhood. Other features, such as optic atrophy and sensory neuropathy with progressive loss of myelinated fibers in the sural nerve, appear later in the disease course. Hypogonadism may occur in females. Some patients show an intellectual deficit. Epilepsy is a late manifestation and seizures may be life-threatening. [Source](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1443)\n\nIn Finland, mitochondrial depletion syndrome type 7 has a population carrier frequency of more than 1:230.\n\n- Original name of the disease: Infantile-onset spinocerebellar ataxia (IOSCA)\n- Associated gene: TWNK gene","name":"Mitochondrial depletion syndrome type 7"},"mitochondrial-diseases":{"description":"Mitochondrial diseases are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, and exposure to toxins (including some prescription medications).\n\nThis is an umbrella community for all mitochondrial diseases as not everyone has identifiable genetic mutations. ","name":"Mitochondrial diseases"},"mkd":{"description":"Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.\n\nMevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA). Source: [NIH-GHR](https://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency#definition)","name":"Mevalonate kinase deficiency (MKD)"},"moebius-syndrome":{"description":"Moebius syndrome is a rare neurological condition resulting in facial paralysis that may include respiratory, eye, limb, speech, hearing and other disorders. \n\nSource: Participating patient organizations visible below","name":"Moebius syndrome"},"molybdenum-cofactor-deficiency":{"description":"The molybdenum cofactor deficiency (MoCD) is a rare, autosomally inherited disease. There are three forms of this disorder. - Type A is caused by a problem in the MOCS1 gene - Type B is caused by a problem in the MOCS2 gene - Type C is caused by a problem in the GPHN gene All the forms of this condition have the same signs and symptoms. Symptoms appear within a week of birth. Generally, the first symptoms include: feeding difficulties, vomiting and seizures which are unresponsive to treatment. This condition is characterised by progressive brain dysfunction and deterioration of the tissue in the brain. Source: Metabolic Support UK","name":"Molybdenum Cofactor Deficiency"},"moyamoya-disease":{"description":"Moyamoya disease is a rare blood vessel (vascular) disorder in which a ring of blood vessels at the base of your brain (the circle of Willis) and the uppermost (distal) segments of the arteries supplying the brain progressively narrow, causing blood flow to your brain to become reduced.\n\nThe condition may cause a ministroke (transient ischemic attack), stroke or other symptoms. Moyamoya disease mainly affects children, but adults may have the condition. Moyamoya disease usually occurs in people from Japan and other Asian countries, but people in North America, Europe and other areas also have moyamoya disease.\n\nSource: patient groups visible below","name":"Moyamoya disease"},"multiple-endocrine-neoplasia":{"description":"Multiple Endocrine Neoplasia (MEN) disorders are rare inherited syndromes which usually cause more than one gland in the body to form growths (neuroendocrine tumors or NETs). Most of the growths occurring in MEN patients are benign (not cancer), but some do develop into cancer. In MEN1, cancer may develop in certain cells in the pancreas. In MEN2, cancer almost always develops in the thyroid gland. Where possible, surgery to remove the thyroid in children diagnosed with MEN2a is performed before age of 5, or within the first year of life in MEN2b. Affected glands over-produce hormones (the body’s chemical messengers), causing a variety of different symptoms. There are currently three main types of MEN, MEN1, MEN2a and MEN2b (MEN3) with other even rarer variants identified. Each child of an affected parent has a 1 in 2 or 50% risk of inheriting the condition.","name":"Multiple Endocrine Neoplasia"},"multiple-myeloma":{"description":"Myeloma, also known as multiple myeloma, is a type of cancer arising from plasma cells which are found in the bone marrow.\n\nSource: Participating patient organizations visible below","name":"Multiple Myeloma"},"multiple-sulfatase-deficiency":{"description":"Multiple Sulfatase Deficiency is lysosomal storage disorder that is neurodegenerative. It is an ultra-rare genetic condition characterized by impaired activity of all known sulfatases.","name":"Multiple Sulfatase Deficiency"},"multiple-system-atrophy":{"description":"Multiple system atrophy (MSA) is a degenerative, neurological disorder.\n\nSource: Participating patient organizations visible below","name":"Multiple System Atrophy"},"myasthenia-gravis":{"description":"Myasthenia Gravis is an auto-immune disease in which the patient’s immune system attacks a vital part of the junction between the nerves and muscles. This weakens the voluntary muscles that move the eyes, face, throat, limbs and breathing, affecting simple functions like smiling and eating; if untreated, it can be life-threatening.\n\nSource: Myasthenia Gravis Association UK","name":"Myasthenia Gravis"},"myhre-syndrome":{"description":"Myhre syndrome is an extremely rare genetic disorder characterized by short stature, distinct facial features, mild to moderate intellectual disability and various bone (skeletal) abnormalities.","name":"Myhre syndrome"},"myositis":{"description":"Myositis is a general term meaning inflammation of the muscles, myositis includes the following diseases:\n\n*   dermatomyositis\n*   inclusion body myositis\n*   juvenile myositis\n*   polymyositis\n\nThe above diseases are also referred to as inflammatory myopathies. They cause inflammation within muscle and muscle damage.","name":"Myositis"},"myotonic-dystrophy":{"description":"Myotonic Dystrophy, also called \"dystrophia myotonica\" or \"DM\", is a very complex genetic predisposition with a progressive degenerative course. The most common effects are muscular problems, especially muscle weakness (myopathy), the difficulty of relaxing tense muscles (myotonia) and the loss of muscle mass (atrophy) that gets worse over the course of life.\n\nA distinction is made between Myotonic Dystrophy (DM) of type 1 (DM1) and type 2 (DM2 or \"proximal myotonic myopathy\", PROMM). Additional potential types of Myotonic Dystrophy triggered by genetic modification are currently the target of further investigation. Genetic testing is done on a blood sample. A prenatal examination is also offered. With appropriate evidence, diagnosing myotonic dystrophy is relatively easy. The way to a confirmed diagnosis, however, can be long and complex. For DM1, a waiting period of six months is typically required, and for DM2, a delay of up to 11 years is required until a confirmed diagnosis is made.\n\nDM also affects a variety of other bodily functions, including the heart, the respiratory and digestive systems. The disease may also affect cognitive function, personality and vision. In spite of a different genetic cause, both forms of the disease are autosomal dominant: If a parent has a diseased gene, the probability that a descendant inherits (and becomes ill) is 50%.","name":"Myotonic Dystrophy (DM)"},"narcolepsy":{"description":"Narcolepsy is a neurological sleep disorder that can begin at any age and continues throughout life. The primary symptoms are excessive daytime sleepiness, cataplexy (sudden loss of voluntary muscle control, usually triggered by emotions) and disrupted nighttime sleep.\n\nSource: Participating patient organizations visible below","name":"Narcolepsy"},"nephrotic-syndrome":{"description":"Nephrotic Syndrome (NS) is not a disease, but an umbrella term for the collection of signs and symptoms that occur when the kidney filters (glomeruli) leak protein into the urine. \n\nSource: [Nephcure](https://nephcure.org/livingwithkidneydisease/understanding-glomerular-disease/)","name":"Nephrotic Syndrome"},"net-cancer":{"description":"NET Cancer or neuroendocrine tumors (NETs), is the umbrella term for a group of unusual, often slow-growing cancers, which develop from cells in the diffuse endocrine system. They are found most commonly in the lung or gastrointestinal system, but they can also originate in other parts of the body such as the pancreas, ovary, and testes, among other sites.","name":"NET Cancer"},"neuroacanthocytosis":{"description":"Neuroacanthocytosis is a group of four severe movement disorders: Chorea-acanthocytosis or ChAc, McLeod Syndrome or MLS, Huntington’s disease-like 2 or HD-like2 and pantothenate kinase associated neurodegeneration or PKAN. All have similarities with Huntington’s and Parkinson’s diseases. There are no cures yet, but that does not mean that we are helpless. Here are stories of what patients and their families do to help one another and encourage doctors to hurry in their search for a therapy.\n\nSource: Participating patient organizations visible below","name":"Neuroacanthocytosis"},"neurodegeneration-with-brain-iron-accumulation-nbia":{"description":"Neurodegeneration with Brain Iron Accumulation (NBIA) comprises a group of rare, genetic neurodegenerative disorders. Common features among all individuals with NBIA include iron accumulation in a part of the brain called the basal ganglia, and a progressive movement disorder. \n\nThis web platform aims at strengthening and enhancing our international community of NBIA patient organizations who have joined forces in the NBIA ALLIANCE. We share common goals in supporting affected families and promoting research. This site on RareConnect provides current information on NBIA, the challenges of living with NBIA, the progress in NBIA research and the main activities in our NBIA lay advocacy community.\n\nSource: NBIA Alliance","name":"Neurodegeneration with Brain Iron Accumulation"},"neurofibromatosis-type-1":{"description":"Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous, genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.\n\nSource: Orphanet","name":"Neurofibromatosis type 1"},"neurofibromatosis-type-2-and-schwannomatosis":{"description":"Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.","name":"Neurofibromatosis type 2 and Schwannomatosis"},"neuromyelitis-optica":{"description":"Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.","name":"Neuromyelitis Optica"},"niemann-pick-disease-type-c":{"description":"Niemann-Pick disease type C (completely distinct from types A and B) is a complex lysosomal lipidosis resulting in hepatosplenomegaly and progressive neurological involvement.\n\nSource: Orphanet","name":"Niemann-Pick disease type C"},"norrie-disease":{"description":"Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. Source: Orphanet","name":"Norrie disease"},"organic-acidemias":{"description":"Organic Acidemias are a group of inheritable genetic metabolic disorders in which there is a defect in protein metabolism where an essential enzyme is absent or malfunctioning.\n\nHere's a listing of the OA Disorders:\n\n- (MHBD) 2-Methyl-3-Hydroxybutyrl CoA Dehydrogenase deficiency\n- (2MBCD) 2-Methylbutyryl-CoA Dehydrogenase Deficiency\n- (HMG) 3-hydroxy-3 -methylglutaryl-CoA lyase deficiency\n- (3-MCC) 3-methylcrotonyl- CoA carboxylase deficiency\n- (MGA) 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency\n- 5-oxoprolinemia\n- (D2-HGA) D-2 Hydroxyglutaric Aciduria\n- (GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I\n- (ICBD) Isobutyryl-CoA Dehydrogenase Deficiency 3-Hydroxyisobutyric aciduria\n- (IVA) Isovaleryl CoA Dehydrogenase Deficiency aka Isovaleric Acidemia\n- (L2HGA) L-2-Hydroxy- glutaricaciduria\n- (MA) Malonyl-CoA Decarboxylase Deficiency aka Malonic Acidemia\n- (MMA) Methlymalonic Acidemia\n- (BKT) Mitochondrial Acetoacetyl CoA Thiolase- (3-Ketothiolase)\n- (MCD, holocarboxylase synthetase) Multiple carboxylase deficiency\n- (PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia\n- (HIBCH) 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency","name":"Organic Acidemias"},"paraneoplastic-neurological-syn":{"description":"Paraneoplastic Neurological Syndromes (PNS) are a group of rare degenerative neurological disorders linked to an auto-immune response to cancer.\n\nSource: Participating patient organizations visible below","name":"Paraneoplastic Neurological syndrome"},"paroxysmal-kinesigenic-dyskinesia":{"description":"Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body. Source: [NIH](https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia)","name":"Paroxysmal Kinesigenic Dyskinesia (PKD)"},"pcd":{"description":"Primary ciliary dyskinesia (PCD) is a rare disease, caused by congenital abnormalities in both structure and function of the motile cilia. It is characterized by upper and lower respiratory tract infections, an increased incidence of situs inversus (SI) and male infertility. It is a genetically heterogeneous and predominantly autosomal recessive disorder.","name":"Primary Ciliary Dyskinesia"},"pemphigus-and-pemphigoid":{"description":"Pemphigus and pemphigoid are rare, autoimmune, blistering diseases where a person’s antibodies attack healthy skin cells instead of viruses and harmful bacteria.\n\nSource participating patient organizations visible below","name":"Pemphigus and Pemphigoid"},"phts":{"description":"PTEN hamartoma tumor syndrome (PHTS) is a term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS. Source: Orphanet","name":"PTEN hamartoma tumor syndrome"},"pierpont-syndrome":{"description":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly. Source: [Oprhanet](https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=487825)","name":"Pierpont Syndrome"},"pierre-robin-sequence":{"description":"Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft. Source: Orphanet","name":"Pierre Robin sequence"},"pitt-hopkins-syndrome":{"description":"Pitt Hopkins Syndrome is a genetic disorder characterised by learning disabilities and developmental delay from moderate to severe, unusual breathing episodes,(apnoea and hyperventilation), epilepsy and distinct facial features. Some people with PTHS do not have seizures or any breathing problems. Many people with PTHS do not talk but most will learn to walk eventually.  \n\n_Source: Patient groups listed below_","name":"Pitt Hopkins syndrome"},"pityriasis-rubra-pilaris":{"description":"Pityriasis rubra pilaris (PRP) is a group of rare skin disorders that cause inflammation and shedding of the skin. It will impact different parts of the body in different ways for unpredictable periods of time while often accompanied by strong itching. The cause of PRP is unknown. Read More: http://prpsurvivalguide.org/ - http://prpalliance.com/","name":"Pityriasis Rubra Pilaris"},"pnh":{"description":"Paroxysmal nocturnal haemoglobinuria (PNH) is a rare disease affecting between approximately one and two people in every one million and affects both men and women at different ages. PNH is an ‘acquired’ genetic disease so it cannot be inherited and patients are usually diagnosed in young adulthood.\n\nPNH is a bone marrow failure disorder where abnormal blood cells can emerge from the bone marrow lacking multiple GPI-anchored proteins as a result of a genetic defect (mutation) in the “PIGA” gene. Absence of these proteins leaves the blood cells unprotected against a series of complex reactions called “complement activation” which is part of the body’s normal immune response to fight infections. As a result, the red blood cells are destroyed (haemolysis) which is the main cause of PNH symptoms and complications.\n\nPNH is often diagnosed with aplastic anaemia although patients can have one without the other. Treatment for aplastic anaemia is different from PNH and will depend on whether it is inherited or acquired. Since June 2007, there has been a licensed treatment for PNH in Europe. This treatment blocks the complement part of the immune system. It is not curative but dramatically reduces symptoms, the most significant of which is the occurrence of blood clots (which used to be the main cause of death in patients) and allows patients to have the life expectancy of someone without PNH. \n\nBone marrow transplants can cure PNH but are rarely used due to the risk of severe complications.\n\n*This text has been reviewed by a PNH specialist.*","name":"Paroxysmal nocturnal hemoglobinuria (PNH)"},"pontine-tegmental-cap-dysplasia":{"description":"Pontine tegmental cap dysplasia (PTCD) is a non-progressive disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain. Individuals with PTCD may have a collection of medical and devlopmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The cause of this condition is unknown.The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with normal intelligence and partial speech.To date, the condition has been identified in less than 20 patients.  \n _Source: [National Institutes of Health](http://rarediseases.info.nih.gov/gard/10919/pontine-tegmental-cap-dysplasia/resources/1)_","name":"Pontine Tegmental Cap Dysplasia"},"porphyria":{"description":"The porphyrias are a group of eight, relatively rare, genetic disorders. In each porphyria a specific enzyme, which is needed to complete each step on the pathway to produce haem, is faulty. With all porphyrias this results in a build-up of porphyrins. They have two possible effects: acute attacks or skin sensitivity in sunlight.\n\nSource: Participating patient organizations visible below","name":"Porphyria"},"postural-orthostatic-tachycardia-syndrome":{"description":"Postural orthostatic tachycardia syndrome (POTS) is a condition characterized by too little blood returning to the heart when moving from a lying down to a standing up position (orthostatic intolerance). Orthostatic Intolerance causes lightheadedness or fainting that can be eased by lying back down. In people with POTS, these symptoms are also accompanied by a rapid increase in heart rate. Although POTS can affect men and women of all ages, most cases are diagnosed in women between the ages of 15 and 50. The cause of POTS is unknown. However, episodes often begin after major surgery, trauma, or a viral illness. In women, episodes may also begin after pregnancy and the symptoms may worsen or the number of episodes may increase right before menstruation. The goal of treatment is to increase blood flow and improve circulatory problems that may be causing POTS. [Source](https://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome)","name":"Postural orthostatic tachycardia syndrome (POTS)"},"ppm1d":{"description":"PPM1D is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by [Jansen et al.](https://www.omim.org/entry/617450), 2017).   ","name":"PPM1D"},"primary-carnitine-deficiency":{"description":"Systemic primary carnitine deficiency is a potentially lethal disorder of fatty acid oxidation characterized by early childhood onset cardiomyopathy often with wekness and hyoptonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. It is autosomal recessive. Diagnosis is based on low plasma carnitine levels. Treatment is with oral levocarnitine three times a day lifelong. Prognosis is excellent as long as carnitine supplementation is maintained. Source: [NIH](https://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency)","name":"Primary carnitine deficiency"},"primary-lymphedema":{"description":"Lymphedema is a swelling that develops as a result of an impaired lymphatic system. Primary lymphedema is usually determined from birth and arises due to some failure of the lymphatic system itself - usually with the underdevelopment of the lymphatic system. However it may occur without any obvious cause at different stages in life, but particularly at puberty. It can affect any part of the body but is most commonly seen in the arms or legs. It is a chronic condition that requires life long management. [Source](https://www.lymphoedema.org/index.php/information-and-support/what-is-lymphoedema)","name":"Pediatric and Primary Lymphedema"},"primary-orthostatic-tremor":{"description":"“Primary Orthostatic tremor is a very rare progressive brain disorder often misdiagnosed as Parkinson’s. The tremor is usually five times the frequency of Parkinson’s and it is very difficult to observe, the tremor needs to be confirmed electrically via an EMG test to confirm its severity. The tremor makes it almost impossible for the patient to stand even for a few seconds.”\n\nSource: NTF UK POT Support Blog","name":"Primary Orthostatic Tremor"},"primary-sclerosing-cholangitis":{"description":"Primary Sclerosing Cholangitis (PSC) is a rare liver disease of the bile ducts, involving an inflammation of the bile ducts (due to unknown cause).","name":"Primary Sclerosing Cholangitis (PSC)"},"propionic-acidemia":{"description":"Propionic Acidemia or Propionic aciduria is a rare metabolic disorder characterized by deficiency of propionyl CoA carboxylase, an enzyme involved in the breakdown (catabolism) of the chemical \"building blocks\" (amino acids) of certain proteins.\n\nSource: National Organization for Rare Disorders (NORD)","name":"Propionic Acidemia"},"pseudomyxoma-peritonei":{"description":"Known as PMP, pseudomyxoma peritonei is a rare cancer that generally starts in the appendix. More rarely, it can start in other parts of the bowel, the ovary or bladder and is thought to affect between one and two people per million per year, of all ages, both men and women.  \n\n_Source: PMP patient organisations listed below_","name":"Pseudomyxoma Peritonei"},"psp":{"description":"Progressive supranuclear palsy (PSP) is an uncommon brain disorder that affects movement, control of walking (gait) and balance, speech, swallowing, vision, mood and behavior, and thinking. The disease results from damage to nerve cells in the brain. The disorder’s long name indicates that the disease worsens (progressive) and causes weakness (palsy) by damaging certain parts of the brain above nerve cell clusters called nuclei (supranuclear). These nuclei particularly control eye movements. One of the classic signs of the disease is an inability to aim and move the eyes properly, which individuals may experience as blurring of vision. Source: [NIH] (https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Progressive-Supranuclear-Palsy-Fact-Sheet)","name":"Progressive Supranuclear Palsy"},"pulmonary-hypertension":{"description":"Pulmonary hypertension (PH) is an increase in blood pressure in the blood vessels of the lung leading to shortness of breath, dizziness, fainting, and other symptoms, which are made worse by exertion and interfere with daily functioning. Pulmonary hypertension can lead to serious illness and disability and, in some cases, heart failure.  \n\nSource: Participating patient organizations visible below","name":"Pulmonary hypertension"},"pura-syndrome":{"description":"Mutations in PURA gene have been described to cause PURA syndrome. PURA syndrome is a rare genetic neurodevelopmental disorder characterized by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia.","name":"PURA Syndrome"},"pycnodysostosis":{"description":"Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones. The most frequent clinical or radiological manifestations of the disease are osteosclerosis, short stature or dwarfism, acroosteolysis of the distal phalanges, fragile bones associated with spontaneous fractures and dysplasia of the clavicles. Patients present with characteristic cranial malformations: a voluminous skull with wormian bones present and persistence of the anterior fontanelle, and a small mandible. Source: Orphanet","name":"Pycnodysostosis"},"rareconnect":{"description":"This global community is the space where all RareConnect members can discuss general topics that are not specific to a particular community. If you want to ask or share something about patient advocacy, research, events, orphan drugs, gene therapy… do it here!","name":"General discussion"},"recurrent-viral-meningitis":{"description":"Recurrent viral meningitis (Mollaret's) is a rare type of viral meningitis that is characterized by repeated episodes of fever, stiff neck (meningismus), muscle aches, and severe headaches separated by weeks or months of no symptoms. +INFO: [NIH-GARD](https://rarediseases.info.nih.gov/diseases/10868/mollaret-meningitis)","name":"Recurrent Viral Meningitis (Mollaret's)"},"refsum-disease":{"description":"Adult Refsum disease is a metabolic disorder caused by a number of faulty genes (principally PHYH) which affect the pathway that degrades a plant-derived chemical called phytol which some bacteria found in ruminant animals turn into Phytanic Acid. In humans if phytanic acid is not degraded it accumulates in nerves, liver and fat. Phytanic acid is not produced in the body but found in many foods. The highest concentration of phytanic acid is found in dairy products, beef, lamb and some fish. Refsum disease can be life threatening if undiagnosed.","name":"Refsum Disease"},"relapsing-polychondritis":{"description":"Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. Source: [Orphanet](http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=8682)","name":"Relapsing polychondritis (RP)"},"rett-syndrome":{"description":"Rett syndrome is a rare, genetic neurodevelopmental disorder which causes lifelong multiple disability almost exclusively in females.\n\nSource: Participating patient organizations visible below","name":"Rett Syndrome"},"ring-chromosome-20-syndrome":{"description":"Ring chromosome 20 epilepsy syndrome, also known as r(20) syndrome, is a rare chromosomal anomaly resulting from a break on each arm of chromosome 20 resulting in ring formation. In r(20) syndrome, the breakpoint of most patients is in the p13q13.33 region of chromosome 20\\. Two distinct forms are recognized, mosaic and non-mosaic ring chromosome 20 epilepsy syndrome.","name":"Ring chromosome 20 syndrome"},"rippling-muscle-disease":{"description":"Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on the muscle causes it to bunch up (percussion-induced muscle mounding) or exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Rippling muscles may also occur as a feature of other muscle disorders such as limb-girdle muscular dystrophy. \n\nSource: Genetics Home Reference","name":"Rippling muscle disease"},"roch-leri-mesosomatous-lipomatosis":{"description":"Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984. Source: [Orphanet](https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=8554&Disease_Disease_Search_diseaseGroup=Roch-Leri-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Roch-Leri-mesosomatous-lipomatosis&title=Roch-Leri%20mesosomatous%20lipomatosis&search=Disease_Search_Simple)","name":"Roch-Leri mesosomatous lipomatosis"},"runx1-fpd-aml":{"description":"RUNX1-familial platelet disorder (RUNX1-FPD) is a hereditary blood disorder which predisposes an individual to developing blood cancer, with an approximate 50% lifetime risk. The RUNX1 gene is important for the formation and function of blood cells. Individuals with RUNX1-FPD have only one healthy copy of the RUNX1 gene, the second copy of the gene is mutated, and as a result, certain blood cell types are adversely affected.","name":"RUNX1 FPD"},"sanfilippo-syndrome":{"description":"Sanfilippo Syndrome or MPSIII, is one of the 6 mucopolysaccharidoses disorders. MPS disorders are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes. These enzymes are responsible for breaking down the complex carbohydrate-Hepran Sulfate (HS). HS builds up and is stored in the lysosome of the cell, causing catastrophic health problems leading to death.\n\nSource: participating patient groups visible below","name":"Sanfilippo Syndrome"},"sarcoglycanopathies":{"description":"There are four sarcoglycan genes named alpha-, beta-, gamma-, and delta that when mutated are associated with sarcoglycanopathies. The sarcoglycanopathies are characterized by scapular winging and calf hypertrophy. Age of onset is usually between 2 years and the mid-teenage years. Cardiac involvement occurs in about 20% of cases. Serum creatine kinase (CK) activity is always elevated.","name":"Sarcoglycanopathies"},"sarcoidosis":{"description":"A rare multisystemic, autoinflammatory disorder of unknown etiology characterized by the formation of immune, non-caseating granulomas in any organ(s), leading to variable clinical symptoms and severity. Clinical presentation is typically with persistent dry cough, eye or skin manifestations, peripheral lymph nodes, fatigue, weight loss, fever or night sweats, and Löfgren syndrome. Source: [Orphanet](https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=797)","name":"Sarcoidosis"},"sca14":{"description":"Spinocerebellar Ataxia type 14 (SCA14) is one of several hereditary spinocerebellar ataxias. It is a slowly progressive neurodegenerative disease, mostly affecting the part of the brain responsible for movement control (cerebellum). Key disease features include: ataxia (balance, gait, and coordination changes), dysarthria (speech changes), and nystagmus (uncontrolled eye movements). Age of onset can be from childhood to 6th decade of life. Lifespan is not shortened.\n\n· Inheritance: An autosomal dominant condition, by which one disease-gene copy causes the disease. \n· Gene: PRKCG \n· Recurrence: If/when affected people have offspring, there is a 50% chance of passing the disease-gene copy.","name":"Spinocerebellar Ataxia type 14"},"schnitzler-syndrome":{"description":"Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. Source: [Orphanet](http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=37748)","name":"Schnitzler syndrome"},"schwartz-jampel-syndrome":{"description":"Schwartz-Jampel syndrome is a rare syndrome characterised by myotonia and osteoarticular abnormalities. Around 100 cases have been described in the literature so far. \n\nThe clinical manifestations appear soon after birth. The myotonia results in a characteristic facies with blepharophimosis and a puckered facial appearance. Low-set ears, external ear anomalies and micrognathia have also been reported. Limited joint mobility leads to an unsteady gait. Joint stiffness is progressive, reaching its peak during adolescence. Flattening of the vertebral bodies, hip dysplasia, bowing of the diaphyses and irregular epiphyses are often observed. The clinical picture also includes short stature, hirsutism, myopia and small testes. [Source](https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=800)","name":"Schwartz-Jampel syndrome"},"scls":{"description":"Systemic capillary leak syndrome (SCLS) is a condition in which fluid and proteins leak out of tiny blood vessels, into surrounding tissues. This can result in dangerously low blood pressure (hypotensison), hypoalbuminemia, and a decrease in plasma volume (hemoconcentration). Initial symptoms may include fatigue, nausea, abdominal pain, extreme thirst, and sudden increase in body weight. Episodes of SCLS vary in frequency, with some people having one episode in their lifetime, and others having several per year. The severity also varies, and the condition can be fatal. Source: [NIH](https://rarediseases.info.nih.gov/diseases/1084/systemic-capillary-leak-syndrome) \n\nOther names: Clarkson disease; Capillary leak syndrome; Idiopathic capillary leak syndrome; Capillary hyperpermeability syndrome; Capillary leak syndrome with monoclonal gammopathy","name":"Systemic capillary leak syndrome (SCLS)"},"scn2a":{"description":"Mutations in the gene SCN2A have been identified as a prominent cause of a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability (ID), and infantile-onset seizures (before the first year of life) of varying severity. Comorbidities include cortical visual impairment, disrupted sleep, gastrointestinal disturbances, uncoordinated oral movements, an unsteady or ataxic gait, clumsiness, hypotonia and muted response to pain and other aversive stimuli.","name":"SCN2A related disorders"},"scn8a-related-epilepsy":{"description":"SCN8A encephalopathy is a rare disorder caused by de novo missense mutations of the sodium channel gene SCN8A, which encodes the neuronal sodium channel Nav 1.6.","name":"SCN8A-related epilepsy"},"spinal-muscular-atrophy":{"description":"Spinal muscular atrophy is a motor neuron disease characterized by the progressive degeneration of nerve cells in the spinal cord and brainstem, leading to muscle weakness, muscle atrophy, and respiratory complications. Among genetic diseases, it is a leading cause of death among children under age two. Spinal muscular atrophy is inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA are caused by mutations in the SMN (survival motor neuron) gene on chromosome 5\\. Deletion of the NAIP (neuronal apoptosis inhibitory protein) gene that is close to the SMN gene is also associated with SMA. SMA is divided into subtypes based on age of onset of symptoms and maximum function achieved.","name":"Spinal muscular atrophy"},"spinocerebellar-ataxia-type-29":{"description":"Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Missense mutations in ITPR1 are responsible. [Source.](https://www.ncbi.nlm.nih.gov/pubmed/28659154)","name":"Spinocerebellar ataxia type 29"},"spontaneous-coronary-artery-dissection":{"description":"Spontaneous Coronary Artery Dissection (SCAD) is a cardiac condition of unknown etiology where a tear or bruise develops in the layers of a heart artery wall, resulting in blockages and restricted blood flow to the heart muscle. This can cause a heart attack or cardiac arrest and can be fatal.\n\nSCAD events currently can’t be predicted or prevented and typically affect people with few or none of the conventional cardiac risk factors.","name":"Spontaneous Coronary Artery Dissection"},"stargardt-disease":{"description":"Stargardt Disease is the most common form of inherited juvenile macular degeneration. The disease not only causes the loss of central vision but also affects colour vision. With onset from about the age of 6, the effects vary from minor to complete loss of central vision. Also known as fundus flavimaculatus, is usually diagnosed in individuals under the age of 20 when decreased central vision is first noticed. The progression of visual loss is variable.  \n\n_Source: Fighting Blindness_","name":"Stargardt disease"},"stickler-syndrome":{"description":"Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders affecting connective tissue, specifically collagen.","name":"Stickler syndrome"},"stiff-person-syndrome":{"description":"Stiff-person syndrome (SPS) is a rare acquired neurological disorder characterized by progressive muscle stiffness (rigidity) and repeated episodes of painful muscle spasms. \n\nSource: NORD Rare Disease Reports","name":"Stiff Person Syndrome"},"syngap1":{"description":"SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorder, which is characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have autism spectrum disorder. Source: [NIH-GHR](https://ghr.nlm.nih.gov/condition/syngap1-related-intellectual-disability)","name":"SYNGAP1 - related intellectual disability"},"technical-feedback":{"description":"Welcome to the technical community.  This community is a great place for you to provide feedback on the current site and add suggestions.  The community is monitored daily by the RareConnect administrators.  Your feedback is important to us and we will make every effort to accommodate the users.  Unfortunately, we will not be able to follow through with all suggestions.","name":"Technical feedback"},"tga":{"description":"Transient global amnesia (TGA) is a condition characterized by sudden onset of memory loss and confusion. During an episode of TGA, a person is not able to make new memories. The person may be disoriented in regard to time and place, but can remember who they are and can recognize family members. TGA typically lasts for several hours, but can last up to ten hours. Since no memories are made during a TGA episode, the person will never remember what happened during this period, but all other memory is usually intact. Most people have only one episode of TGA during their lifetime. The underlying cause of TGA is unclear. There is no specific treatment for TGA as it usually resolves on its own. [Source](https://rarediseases.info.nih.gov/diseases/8172/transient-global-amnesia)","name":"Transient Global Amnesia"},"tnf-receptor-associated-periodic-fever-syndrome":{"description":"Tumor Necrosis Factor (TNF) Receptor-Associated Periodic Fever Syndrome (TRAPS), also known as Familial Hibernian Fever (FHF) is a rare, dominantly-inherited autoinflammatory disease that is caused by a mutation in the TNFRSF1A gene.\n\nSource: NOMID Alliance","name":"TNF Receptor-Associated Periodic Fever Syndrome"},"transverse-myelitis":{"description":"Transverse myelitis is an inflammation of both sides of one section of the spinal cord. This neurological disorder often damages the insulating material covering nerve cell fibers (myelin). Transverse myelitis interrupts the messages that the spinal cord nerves send throughout the body. This can cause pain, muscle weakness, paralysis, sensory problems, or bladder and bowel dysfunction.\n \nSeveral factors can cause transverse myelitis, including infections and immune system disorders that attack the body's tissues. It could also be caused by other myelin disorders, such as multiple sclerosis.\n\nSource: Mayo Clinic","name":"Transverse myelitis (TM)"},"treacher-collins-syndrome":{"description":"Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities and associated with several head and neck defects. Source: Orphanet","name":"Treacher-Collins syndrome"},"trichorhinophalangeal-syndrome":{"description":"Trichorhinophalangeal syndromes (TRPS) **type 1 and 3** are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.  \n\nLanger-Giedon syndrome or trichorhinophalangeal syndrome **type 2** is characterized by the association of intellectual deficit and numerous other anomalies including redundant skin, multiple cartilaginous exostoses, characteristic facies and cone-shaped phalangeal epiphyses. The severity and number of these malformations varies between patients.  \n\nSource: Orphanet","name":"Trichorhinophalangeal syndrome"},"trimethylaminuria":{"description":"Trimethylaminuria or TMAU, formerly called Fish Odor Syndrome, is a metabolic disorder where the body lacks enough enzyme to break down trimethylamine.\n\nSource: Participating patient organizations visible below","name":"Trimethylaminuria (TMAU)"},"trio-gene":{"description":"TRIO-related intellectual disability (ID) is characterized by delay in acquisition of motor and language skills, mild to borderline intellectual disability, and neurobehavioral problems (including autistic traits or autism spectrum disorder, attention-deficit/hyperactivity disorder, and/or aggression). Neonatal or infantile feeding difficulties including poor suck, impaired bottle feeding, and failure to thrive are common and are often the presenting finding. Other findings can include microcephaly, variable hand and dental abnormalities, and suggestive facial features. Only ten of the 20 individuals with a TRIO pathogenic variant reported to date had sufficient information to make preliminary generalizations about clinical manifestations; it is anticipated that the phenotype of this newly described disorder will continue to evolve. [Source](https://www.ncbi.nlm.nih.gov/books/NBK447257/).","name":"TRIO-related intellectual disability"},"turner-syndrome":{"description":"Turner syndrome is a rare genetic disorder, related to the absence and/or alteration of the 46th chromosome, resulting from a genetic accident and is in no way the result of a hereditary transmission by parents.  Turner's Syndrome, ** manifests itself differently from one person to another, ** the main symptoms being a small size (in more than 98% of cases) compensated by the intake of growth hormones during childhood, and infertility in adulthood in a very large majority of cases, leading people with the syndrome to turn to adoption or different specific medical techniques. \n\nOther manifestations are often observed, such as cardiac and/or renal malformation, peculiar facial features, swollen hands and feet, incidences are also sometimes noted on the bone density, the ears (repeated otitis and possible hearing loss ), impaired vision and/or increased risk of diabetes among others.","name":"Turner syndrome"},"undiagnosed-diseases":{"description":"A term used to describe people who are thought to have a genetic syndrome or condition that doctors have so far been unable to identify.","name":"Undiagnosed diseases"},"univentricular-heart-condition":{"description":"Univentricular heart condition (Double Inlet or Double Outlet Ventricle) is the term used to describe a number of congenital heart defects whose common feature is the lack of two fully-developed pumping chambers (ventricles).\n\nSource: [Great Ormond Street Hospital](http://www.gosh.nhs.uk/medical-conditions/search-for-medical-conditions/functionally-univentricular-heart/)","name":"Univentricular heart condition"},"urea-cycle-disorders":{"description":"A urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream.\n\nThe six urea cycle disorders are:\n\n*   Arginase Deficiency (AG)\n*   Argininosuccinic Aciduria (ASA)\n*   Carbamyl Phosphate Synthetase Deficiency (CPS)\n*   Citrullinaemia\n*   N-Acetylglutamate Synthetase Deficiency (NAGS)\n*   Ornithine Transcarbamylase Deficiency (OTC)","name":"Urea Cycle Disorders"},"usher-syndrome":{"description":"Usher syndrome (US) is characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss.","name":"Usher syndrome"},"vasculitis":{"description":"Vasculitis (vas-kyu-LI-tis) is a condition that involves inflammation in the blood vessels and is a family of rare autoimmune diseases that can affect people of all ages. Vasculitis means inflammation of the blood vessels, arteries, veins or capillaries. When such inflammation occurs, it causes changes in the walls of blood vessels, such as weakening and narrowing that can progress to the point of blood vessel blockage. The different types of vasculitis are classified according to the size and location of the blood vessels that are affected.  \n\n_Source: patient groups listed below_","name":"Vasculitis"},"vcp-disease":{"description":"VCP Disease is a rare genetic disease, which can affect a patient's muscles, bones and brain.  There are less than 500 people currently diagnosed with this disease worldwide.  Leading researchers believe there may be significantly more patients with this mutation, but they are being misdiagnosed as MS, MD, ALS, myositis or myopathy. VCP Disease is caused by a mutation in a gene called Valosin Containing Protein (VCP or p97).  The VCP gene provides instructions for producing the VCP enzyme. VCP Disease primarily manifests as IBMPFD, which identifies the three primary disorders originally associated with the disease:  Inclusion Body Myopathy, Paget's Disease of Bone, and Frontotemporal Dementia. A person with IBMPFD may have one, two, or all of these disorders.  There are no known cures or treatments for myopathy or dementia, but there is an approved treatment for Paget's disease of bone.  Early testing is very important. Source: [Cure VCP Disease](https://www.curevcp.org/)","name":"VCP disease"},"von-hippel-lindau":{"description":"Von Hippel Lindau (VHL) is a rare genetic cancer syndrome, an alteration in the VHL-tumor-suppressor gene, which puts the individual at increased risk of developing tumors in various organs throughout life.\n\nSource: Participating patient organizations visible below","name":"Von Hippel-Lindau"},"waldenstrom-macroglobulinemia":{"description":"Waldenström macroglobulinemia (WM) is a rare form of blood cancer.\n\nSource: Participating patient organizations visible below","name":"Waldenstrom Macroglobulinemia"},"warburg-micro-syndrome":{"description":"Warburg micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.\nSource: Orphanet","name":"Warburg micro syndrome"},"whim-syndrome":{"description":"Whim syndrome is the acronym for Warts, Hypogammaglobulinemia, Immunodeficieny, Myelokathexis. It is a genetic syndrome with dominant autosomal inheritance characterized by chronic neutropenia associated with bone marrow hypercellularity (myelokathexis). \n\nSource: Participating patient organizations visible below","name":"WHIM Syndrome"},"white-sutton-syndrome":{"description":"White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding. A significant number of patients have autism or autistic features. [Source](https://www.omim.org/entry/616364)","name":"White-Sutton Syndrome (WHSUS)"},"williams-syndrome":{"description":"Williams Syndrome (WS), also known as Williams–Beuren syndrome (WBS), is a disorder caused by a microdeletion in chromosome number 7. Most cases of Williams syndrome are not inherited but occur as random events. These cases occur in people with no history of the disorder in their family.\n\nSource: Patient groups listed below","name":"Williams Syndrome"},"wolcott-rallison-syndrome":{"description":"Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Source: Orphanet","name":"Wolcott-Rallison syndrome"},"zc4h2-deficiency":{"description":"Mutations in ZC4H2 gene have been described to cause ZC4H2-Associated Rare Disorders (ZARD) or ZC4H2 Deficiency. ZARD is a rare neurodevelopmental disorder formerly known as Wieacker-Wolff syndrome. It is a severe X-linked recessive condition characterized by severe contractures (arthrogryposis), gross motor delay, hyerptonia and intellectual disability. The severity of phenotypes is variable among males and females.","name":"ZC4H2-Associated Rare Disorders (ZARD)"},"zttk-syndrome":{"description":"ZTTK syndrome is a severe multi-system developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum. Source: OMIM","name":"ZTTK syndrome"}}},"profile":{},"registry":null,"snackbar":{"isSnackbarOpen":false,"snackbarMessage":"","autoHideDuration":10000,"snackbarStatus":""}}</script>

  
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