{"orpha":658843,"name":"Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HADDS","Hypotonia-ataxia-delayed developmental syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-658843/","orphanet_url":"https://www.orpha.net/en/disease/detail/658843","names":{"fr":{"name":"Syndrome de retard de développement-ataxie-hypotonie-dysmorphie faciale","synonyms":["HADDS","Syndrome d'hypotonie-ataxie-retard de développement"]},"de":{"name":"Entwicklungsverzögerung-Ataxie-Hypotonie-Gesichtsdysmorphie-Syndrom","synonyms":["HADDS","Hypotonie-Ataxie-Entwicklungsverzögerung-Syndrom"]},"es":{"name":"Síndrome de retraso del desarrollo-ataxia-hipotonía-dismorfia facial","synonyms":["HADDS","Síndrome de hipotonía-ataxia-retraso del desarrollo"]},"it":{"name":"Sindrome ritardo dello sviluppo-atassia-ipotonia-dismorfismi facciali","synonyms":["HADDS","Sindrome ipotonia-atassia-ritardo nello sviluppo"]},"nl":{"name":"Ontwikkelingsachterstand - ataxie - hypotonie - faciale dysmorfie-syndroom","synonyms":["HADDS","Hypotonie - ataxie - ontwikkelingsachterstand-syndroom"]},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-ataxia-hipotonia-dismorfia facial"},"pl":{"name":"Zespół opóźnienia rozwojowego, ataksji, hipotonii i dysmorfii twarzy","synonyms":["HADDS","Hypotonia-ataxia-delayed developmental syndrome"]},"cs":{"name":"Syndrom zahrnující vývojové opoždění, ataxii, hypotonii a faciální dysmorfii","synonyms":["HADDS","Hypotonia-ataxia-delayed developmental syndrome"]},"uk":{"name":"Синдром затримки розвитку-атаксії-гіпотонії-дисморфізму обличчя"}},"xrefs":[{"source":"OMIM","code":"617330","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"15021","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925144","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":"EBF3","name":"EBF transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28017373[PMID]","hgnc":"19087","ensembl":"ENSG00000108001","omim":"607407","loci":["10q26.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":62.0,"area":"Worldwide","status":"Validated","source":"28017373[PMID]_28017372[PMID]_28017370[PMID]_35340043[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28017373[PMID]_28017372[PMID]_28017370[PMID]_35340043[PMID]_ORPHANET"}],"phenotypes":null}