{"orpha":726677,"name":"Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MED27-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726677/","orphanet_url":"https://www.orpha.net/en/disease/detail/726677","names":{"fr":{"name":"Syndrome de retard global de développement-cataracte bilatérale-atrophie cérébelleuse-anomalie du mouvement","synonyms":["Trouble du neurodéveloppement associé à MED27"]},"de":{"name":"Globale Entwicklungsverzögerung-beidseitige Katarakt-Kleinhirnatrophie-Bewegungsstörung-Syndrom","synonyms":["MED27-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso global del desarrollo-cataratas bilaterales-atrofia cerebelosa-trastornos del movimiento","synonyms":["Trastorno del neurodesarrollo asociado al gen MED27"]},"it":{"name":"Sindrome ritardo dello sviluppo globale -cataratta bilaterale-atrofia cerebellare-disturbi del movimento","synonyms":["Malattia del neurosviluppo correlata a MED27"]},"nl":{"name":"Algehele ontwikkelingsachterstand - bilateraal cataract - cerebellaire atrofie - bewegingsstoornis-syndroom","synonyms":["MED27-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-bilateral cataracts-cerebellar atrophy-movement disorder syndrome"},"pl":{"name":"Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome","synonyms":["MED27-related neurodevelopmental disorder"]},"cs":{"name":"Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome","synonyms":["MED27-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"619286","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"MED27","name":"mediator complex subunit 27","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33443317[PMID]","hgnc":"2377","ensembl":"ENSG00000160563","omim":"605044","loci":["9q34.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":57.0,"area":"Worldwide","status":"Validated","source":"33443317[PMID]_37517035[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33443317[PMID]_37517035[PMID]_ORPHANET"}],"phenotypes":null}