{"orpha":85334,"name":"X-linked neurodegenerative syndrome, Bertini type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85334/","orphanet_url":"https://www.orpha.net/en/disease/detail/85334","names":{"fr":{"name":"Syndrome neurodégénératif lié à l'X type Bertini","definition":"Déficience intellectuelle syndromique liée à l'X, caractérisée par une ataxie congénitale, une hypotonie généralisée, un retard global de développement avec déficience intellectuelle, une encéphalopathie myoclonique, une détérioration neurologique progressive, une dégénérescence maculaire et des infections bronchopulmonaires récurrentes."},"de":{"name":"Neurodegeneratives Syndrom, X-chromosomales, Typ Bertini","definition":"Eine X-chromosomale syndromale Form der Intelligenzminderung, die durch kongenitale Ataxie und generalisierte Hypotonie, globale Entwicklungsverzögerung mit intellektueller Beeinträchtigung, myoklonische Enzephalopathie, progressive neurologische Verschlechterung, Makuladegeneration und rezidivierende bronchopulmonale Infektionen gekennzeichnet ist."},"es":{"name":"Síndrome neurodegenerativo ligado al cromosoma X tipo Bertini","definition":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por ataxia congénita e hipotonía generalizada, retraso global del desarrollo con discapacidad intelectual, encefalopatía mioclónica, deterioro neurológico progresivo, degeneración macular e infecciones broncopulmonares recurrentes."},"it":{"name":"Sindrome neurodegenerativa legata all'X tipo Bertini","definition":"È una disabilità intellettiva sindromica legata all'X, caratterizzata da atassia congenita, ipotonia generalizzata, ritardo dello sviluppo globale, disabilità intellettiva, encefalopatia mioclonica, deterioramento neurologico progressivo, degenerazione maculare e infezioni broncopolmonari ricorrenti."},"nl":{"name":"X-gebonden neurodegeneratief syndroom, Bertini-type","definition":"Een X-gebonden, syndromale intellectuele beperking die gekarakteriseerd wordt door congenitale ataxie en gegeneraliseerde hypotonie, algehele ontwikkelingsachterstand met intellectuele achterstand, myoclonische encefalopathie, progressieve neurologische aftakeling, maculadegeneratie, en recurrente bronchopulmonale infecties."},"pt":{"name":"Síndrome neurodegenerativa ligada ao X, tipo Bertini"},"pl":{"name":"Zespół neurozwyrodnieniowy typu Bertini sprzężony z chromosomem X"},"cs":{"name":"X-vázaný neurodegenerativní syndrom, Bertiniho typ"},"uk":{"name":"Х-зчеплений нейродегенеративний синдром, тип Бертіні","definition":"An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections."},"zh":{"name":"X连锁神经退行性病变综合征，Bertini型"},"tr":{"name":"X'e bağlı nörodejeneratif sendrom, Bertini tipi"}},"xrefs":[{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019427","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305133","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":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1605224[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"1605224[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200134","label":"Epileptic encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000608","label":"Macular degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006538","label":"Recurrent bronchopulmonary infections","frequency":"Very frequent (99-80%)","criteria":null}]}}