{"orpha":717823,"name":"Global developmental delay-recurrent infections-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ANKRD17-related neurodevelopmental disorder","Chopra-Amiel-Gordon syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-717823/","orphanet_url":"https://www.orpha.net/en/disease/detail/717823","names":{"fr":{"name":"Syndrome de retard global du développement-infections récurrentes-dysmorphie faciale","synonyms":["Syndrome Chopra-Amiel-Gordon","Trouble du neurodéveloppement associé à ANKRD17"]},"de":{"name":"Globales Entwicklungsverzögerungs-rezidivierende Infektionen-Gesichtsdysmorphie-Syndrom","synonyms":["Chopra-Amiel-Gordon-Syndrom","ANKRD17-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de retraso global del desarrollo-infecciones recurrentes-dismorfia facial","synonyms":["Trastorno del neurodesarrollo asociado a ANKRD17","Síndrome de Chopra-Amiel-Gordon"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-infezioni ricorrenti-dismorfismi facciali","synonyms":["Sindrome di Chopra-Amiel-Gordon","Malattia del neurosviluppo correlata a ANKRD17"]},"nl":{"name":"Algehele ontwikkelingsachterstand - recidiverende infecties - faciale dysmorfie-syndroom","synonyms":["Syndroom van Chopra-Amiel-Gordon","ANKRD17-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-recurrent infections-facial dysmorphism syndrome"},"pl":{"name":"Global developmental delay-recurrent infections-facial dysmorphism syndrome","synonyms":["ANKRD17-related neurodevelopmental disorder","Chopra-Amiel-Gordon syndrome"]},"cs":{"name":"Global developmental delay-recurrent infections-facial dysmorphism syndrome","synonyms":["ANKRD17-related neurodevelopmental disorder","Chopra-Amiel-Gordon syndrome"]}},"xrefs":[{"source":"OMIM","code":"619504","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"ANKRD17","name":"ankyrin repeat domain 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33909992[PMID]","hgnc":"23575","ensembl":"ENSG00000132466","omim":"615929","loci":["4q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}