{"orpha":726684,"name":"Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["KAT5-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726684/","orphanet_url":"https://www.orpha.net/en/disease/detail/726684","names":{"fr":{"name":"Syndrome de retard global de développement-anomalies urogénitales-atrophie cérébelleuse-fente du palais","synonyms":["Trouble du neurodéveloppement associé à KAT5"]},"de":{"name":"Globale Entwicklungsverzögerung-urogenitale Anomalien-Kleinhirnatrophie-Gaumenspalte-Syndrom","synonyms":["KAT5-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso global del desarrollo-anomalías urogenitales-atrofia cerebelosa-paladar hendido","synonyms":["Trastorno del neurodesarrollo asociado al gen KAT5"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-anomalie urogenitali-atrofia cerebellare-palatoschisi","synonyms":["Malattia del neurosviluppo correlata a KAT5"]},"nl":{"name":"Algehele ontwikkelingsachterstand - urogenitale anomalieën - cerebellaire atrofie - gespleten gehemelte-syndroom","synonyms":["KAT5-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome"},"pl":{"name":"Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome","synonyms":["KAT5-related neurodevelopmental disorder"]},"cs":{"name":"Global developmental delay-urogenital anomalies-cerebellar atrophy-cleft palate syndrome","synonyms":["KAT5-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"619103","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":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis 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":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"KAT5","name":"lysine acetyltransferase 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32822602[PMID]","hgnc":"5275","ensembl":"ENSG00000172977","omim":"601409","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}