{"orpha":85336,"name":"X-linked neurodegenerative syndrome, Hamel type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85336/","orphanet_url":"https://www.orpha.net/en/disease/detail/85336","names":{"fr":{"name":"Syndrome neurodégénératif lié à l'X type Hamel","definition":"Déficience intellectuelle syndromique liée à l'X, caractérisée par quelques mois de développement normal, suivis d'une évolution neurodégénérative progressive avec perte graduelle de la vision, développement d'une tétraplégie spastique, convulsions, microcéphalie, retard de croissance et décès précoce."},"de":{"name":"Neurodegeneratives Syndrom, X-chromosomales, Typ Hamel","definition":"Eine X-chromosomale syndromale Form der Intelligenzminderung, die durch eine normale Entwicklung innerhalb der ersten Monate gekennzeichnet ist, gefolgt von einem progressiven neurodegenerativen Verlauf mit allmählichem Verlust des Sehvermögens, Entwicklung einer spastischen Tetraplegie, Krämpfen, Mikrozephalie, Gedeihstörung und frühem Tod."},"es":{"name":"Síndrome neurodegenerativo ligado al cromosoma X tipo Hamel","definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por un periodo de pocos meses de desarrollo normal seguido de un cuadro neurodegenerativo progresivo con pérdida gradual de la visión, desarrollo de tetraplejia espástica, crisis comiciales, microcefalia, fallo de medro y muerte prematura."},"it":{"name":"Sindrome neurodegenerativa legata all'X tipo Hamel","definition":"È una disabilità intellettiva sindromica legata all'X, caratterizzata da uno sviluppo normale per pochi mesi, seguito da neurodegenerazione progressiva associata a perdita graduale della vista, tetraplegia spastica, convulsioni, microcefalia, ritardo della crescita e morte prematura."},"nl":{"name":"X-gebonden neurodegeneratief syndroom, Hamel-type","definition":"Een X-gebonden, syndromale intellectuele beperking die gekarakteriseerd wordt door enkele maanden met normale ontwikkeling, gevolgd door een progressief neurodegeneratief verloop met gradueel verlies van gezichtsvermogen, ontwikkeling van spastische tetraplegie, convulsies, microcefalie, groeiachterstand, en vroegtijdig overlijden."},"pt":{"name":"Síndrome neurodegenerativa ligada ao X, tipo Hamel"},"pl":{"name":"Zespół neurozwyrodnieniowy typu Hamela sprzężony z chromosomem X"},"cs":{"name":"X-vázaný neurodegenerativní syndrom, Hamelův typ"},"uk":{"name":"Х-зчеплений нейродегенеративний синдром, тип Гамеля","definition":"An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death."},"zh":{"name":"X连锁神经退行性病变综合征，Hamel型"},"tr":{"name":"X'e bağlı nörodejeneratif sendrom, Hamel tipi"}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019429","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305135","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"10051014[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10051014[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10051014[PMID]","terms":[{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null}]}}