{"orpha":708178,"name":"Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ZNF148-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708178/","orphanet_url":"https://www.orpha.net/en/disease/detail/708178","names":{"fr":{"name":"Syndrome de retard global de développement-apraxie de la parole-dysmorphie faciale-anomalies des membres et des paupières","synonyms":["Trouble du neurodéveloppement associé à ZNF148"]},"de":{"name":"Globale Entwicklungsverzögerung-Sprachapraxie-Gesichtsdysmorphie-Gliedmaßen- und Gaumenanomalien-Syndrom","synonyms":["Neurologische Entwicklungsstörung, ZNF148-assoziierte"]},"es":{"name":"Síndrome de retraso global del desarrollo-apraxia del habla-dismorfia facial-anomalías palpebrales y de las extremidades","synonyms":["Trastorno del neurodesarrollo asociado a ZNF148"]},"it":{"name":"Sindrome ritardo globale dello sviluppo-aprassia del linguaggio-dismorfismi facciale-anomalie degli arti e delle palpebre","synonyms":["Malattia del neurosviluppo correlata a ZNF148"]},"nl":{"name":"Algehele ontwikkelingsachterstand - spraakapraxie - faciale dysmorfie - anomalieën van ledematen en oogleden-syndroom","synonyms":["ZNF148-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome"},"pl":{"name":"Zespół globalnego opóźnienia rozwoju, apraksji mowy, dysmorfii twarzy oraz wad kończyn i powiek","synonyms":["ZNF148-related neurodevelopmental disorder"]},"cs":{"name":"Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome","synonyms":["ZNF148-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"617260","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","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":"ZNF148","name":"zinc finger protein 148","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27964749[PMID]_36444493[PMID]_37580113[PMID]","hgnc":"12933","ensembl":"ENSG00000163848","omim":"601897","loci":["3q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"37580113[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"37580113[PMID]_ORPHANET"}],"phenotypes":null}