{"orpha":717884,"name":"Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PAK1-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717884/","orphanet_url":"https://www.orpha.net/en/disease/detail/717884","names":{"fr":{"name":"Syndrome de retard global de développement-macrocéphalie acquise-ataxia-convulsions fébriles","synonyms":["Trouble du neurodéveloppement associé à PAK1"]},"de":{"name":"Globale Entwicklungsverzögerung-erworbene Makrozephalie-Ataxie-Fieberkrämpfe-Syndrom","synonyms":["PAK1-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso global del desarrollo-macrocefalia adquirida-ataxia-convulsiones febriles","synonyms":["Trastorno del neurodesarrollo asociado a PAK1"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-macrocefalia acquisita-atassia-convulsioni febbrili","synonyms":["Malattia del neurosviluppo correlata a PAK1"]},"nl":{"name":"Algehele ontwikkelingsachterstand - verworven macrocefalie - ataxie - febriele insulten-syndroom","synonyms":["PAK1-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome"},"pl":{"name":"Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome","synonyms":["PAK1-related neurodevelopmental disorder"]},"cs":{"name":"Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome","synonyms":["PAK1-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"618158","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":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"PAK1","name":"p21 (RAC1) activated kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37820543[PMID]_36905087[PMID]","hgnc":"8590","ensembl":"ENSG00000149269","omim":"602590","loci":["11q13.5-q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}