{"orpha":411511,"name":"Angelman syndrome due to a point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Angelman syndrome","url":"https://raremap.alftech.space/d/ORPHA-411511/","orphanet_url":"https://www.orpha.net/en/disease/detail/411511","names":{"fr":{"name":"Syndrome d'Angelman dû à une mutation ponctuelle"},"de":{"name":"Angelman-Syndrom durch Punktmutation"},"es":{"name":"Síndrome de Angelman por una mutación puntual"},"it":{"name":"Sindrome di Angelman da mutazione puntiforme"},"nl":{"name":"Syndroom van Angelman door puntmutatie"},"pt":{"name":"Síndrome Angelman por mutação pontual"},"pl":{"name":"Zespół Angelmana spowodowany mutacją punktową"},"cs":{"name":"Angelmanův syndrom způsobený bodovými mutacemi"},"uk":{"name":"Синдром Ангельмана, зумовлений точковою мутацією"},"zh":{"name":"点突变导致的天使综合征"},"tr":{"name":"Nokta mutasyonuna bağlı Angelman sendromu"}},"xrefs":[{"source":"OMIM","code":"105830","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018461","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681146","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":72,"name":"Angelman syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"UBE3A","name":"ubiquitin protein ligase E3A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]","hgnc":"12496","ensembl":"ENSG00000114062","omim":"601623","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-03","source":"12566516[PMID]_20301323[PMID]","terms":[{"hpo":"HP:0004485","label":"Cessation of head growth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040082","label":"Happy demeanor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent 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