{"orpha":687424,"name":"ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["10p15.3 microdeletion syndrome","Del(10)(p15.3)","Deletion 10p15.3"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-687424/","orphanet_url":"https://www.orpha.net/en/disease/detail/687424","names":{"fr":{"name":"Syndrome de retard du développement-retard de langage-épilepsie-troubles du comportement-dysmorphie craniofaciale dû à la microdélétion 10p15.3","synonyms":["Del(10)(p15.3)","Délétion 10p15.3","Syndrome de microdélétion 10p15.3"]},"de":{"name":"Mikrodeletionssyndrom 10p15.3","synonyms":["Del(10)(p15.3)","Deletion 10p15.3"]},"es":{"name":"Síndrome de retraso psicomotor-retraso del habla-crisis-trastornos de conducta-dismorfia craneofacial asociado a ZMYND11 por microdeleción 10p15.3","synonyms":["Del(10)(p15.3)","Deleción 10p15.3","Síndrome de microdeleción 10p15.3"]},"it":{"name":"10p15 deletion syndrome"},"nl":{"name":"ZMYND11-gerelateerd ontwikkelingsachterstand - spraakachterstand - insulten - gedragsstoornissen - craniofaciale dysmorfie-syndroom door 10p15.3-microdeletie","synonyms":["10p15.3-microdeletiesyndroom","Del(10)(p15.3)","Deletie 10p15.3"]},"pt":{"name":"Síndrome perturbação do desenvolvimento-atraso na fala-convulsões-anomalias comportamentais-dismorfia craniofacial ZMYND11-relacionada por microdeleção 10p15.3","synonyms":["Del(10)(p15.3)","Deleção 10p15.3","Síndrome de microdeleção 10p15.3"]},"pl":{"name":"Związany ze ZMYND-11 zespół z opóźnieniem rozwoju i mowy, drgawkami, zaburzeniami zachowania i dysmorfią twarzoczaszki spowodowany mikrodelecją 10p15.3","synonyms":["10p15.3 microdeletion syndrome","Del(10)(p15.3)","Deletion 10p15.3"]},"cs":{"name":"Syndrom mikrodelece 10p15","synonyms":["10p15.3 microdeletion syndrome","Del(10)(p15.3)","Deletion 10p15.3"]}},"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":1580,"name":"Distal deletion 10p syndrome","classifications":[147,156]},{"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":"Role in the phenotype of","status":"Assessed","source":"25281490[PMID]_22847950[PMID]","hgnc":"16966","ensembl":"ENSG00000015171","omim":"608668","loci":["10p15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}