{"orpha":694308,"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-694308/","orphanet_url":"https://www.orpha.net/en/disease/detail/694308","names":{"fr":{"name":"Syndrome de retard du développement-retard de langage-épilepsie-troubles du comportement-dysmorphie craniofaciale dû à une mutation ponctuelle du gène ZMYND11"},"de":{"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation"},"es":{"name":"Síndrome de retraso del desarrollo-retraso del habla-epilepsia-trastornos de la conducta-dismorfia craneofacial por una mutación puntual del gen ZMYND11"},"it":{"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation"},"nl":{"name":"ZMYND11-gerelateerd ontwikkelingsachterstand - spraakachterstand - insulten - gedragsafwijkingen - craniofaciale dysmorfie-syndroom door een puntmutatie"},"pt":{"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation"},"pl":{"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation"},"cs":{"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation"}},"xrefs":[{"source":"OMIM","code":"616083","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":694304,"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"ZMYND11","name":"zinc finger MYND-type containing 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38397245[PMID]","hgnc":"16966","ensembl":"ENSG00000015171","omim":"608668","loci":["10p15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}