{"orpha":658595,"name":"DNMT3A-related microcephalic dwarfism","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HESJAS","Heyn-Sproul-Jackson syndrome","Microcephaly-short stature-intellectual disability syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-658595/","orphanet_url":"https://www.orpha.net/en/disease/detail/658595","names":{"fr":{"name":"Nanisme microcéphalique associé à DNMT3A","synonyms":["HESJAS","Syndrome de Heyn-Sproul-Jackson","Syndrome de microcéphalie-petite taille-déficience intellectuelle"]},"de":{"name":"Kleinwuchs, mikrozephaler, DNMT3A-assoziierter","synonyms":["HESJAS","Heyn-Sproul-Jackson-Syndrom","Mikrozephalie-Kleinwuchs-Intelligenzminderung-Syndrom"]},"es":{"name":"Displasia microcefálica asociada a DNMT3A","synonyms":["Síndrome de Heyn-Sproul-Jackson","Síndrome de microcefalia-talla baja-discapacidad intelectual"]},"it":{"name":"Nanismo microcefalico correlato a DNMT3A","synonyms":["HESJAS","Sindrome di Heyn-Sproul-Jackson","Sindrome microcefalia-bassa statura-disabilità intellettiva"]},"nl":{"name":"DNMT3A-gerelateerde microcefale dwerggroei","synonyms":["HESJAS","Microcefalie - kleine gestalte - intellectuele achterstand-syndroom","Syndroom van Heyn-Sproul-Jackson"]},"pt":{"name":"Nanismo microcefálico DNMT3A-relacionado","synonyms":["HESJAS","Síndrome Heyn-Sproul-Jackson","Síndrome de microcefalia-baixa estatura-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Karłowatość mikrocefaliczna związana z DNMT3A","synonyms":["HESJAS","Heyn-Sproul-Jackson syndrome","Microcephaly-short stature-intellectual disability syndrome"]},"cs":{"name":"Mikrocefalický dwarfismus asociovaný s DNMT3A","synonyms":["HESJAS","Heyn-Sproul-Jackson syndrome","Microcephaly-short stature-intellectual disability syndrome"]},"uk":{"name":"Мікроцефальна карликовість, повязана з DNMT3A","synonyms":["HESJAS","Синдром Хейна-Спроула-Джексона","Синдром мікроцефалії - низький зріст - розумова відсталість"]}},"xrefs":[{"source":"OMIM","code":"618724","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032882","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32882","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5231475","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":324761,"name":"Microcephalic primordial dwarfism","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"DNMT3A","name":"DNA methyltransferase 3 alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"37517811[PMID]","hgnc":"2978","ensembl":"ENSG00000119772","omim":"602769","loci":["2p23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"30478443[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30478443[PMID]_ORPHANET"}],"phenotypes":null}