{"orpha":694304,"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-694304/","orphanet_url":"https://www.orpha.net/en/disease/detail/694304","names":{"fr":{"name":"Syndrome de retard du développement-retard de langage-épilepsie-troubles du comportement-dysmorphie craniofaciale associé à ZMYND11"},"de":{"name":"ZMYND11-assoziierte syndromale Entwicklungsverzögerung mit Sprachverzögerung, Krampfanfällen, Verhaltensauffälligkeiten und kraniofazialen Dysmorphien"},"es":{"name":"Síndrome de retraso del desarrollo-retraso del habla-epilepsia-trastornos de la conducta-dismorfia craneofacial asociado a ZMYND11"},"it":{"name":"Sindrome ritardo dello sviluppo-ritardo del linguaggio-crisi epilettiche-anomalie comportamentali-dismorfismi craniofacciali correlata a ZMYND11"},"nl":{"name":"ZMYND11-gerelateerd ontwikkelingsachterstand - spraakachterstand - insulten - gedragsafwijkingen - craniofaciale dysmorfie-syndroom"},"pt":{"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome"},"pl":{"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome"},"cs":{"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome"}},"xrefs":[{"source":"OMIM","code":"616083","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":[{"orpha":687424,"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion","type":"Etiological subtype"},{"orpha":694308,"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":694308,"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation"}},{"symbol":"ZMYND11","name":"zinc finger MYND-type containing 11","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25281490[PMID]_22847950[PMID]","hgnc":"16966","ensembl":"ENSG00000015171","omim":"608668","loci":["10p15.3"],"via":{"orpha":687424,"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}