{"orpha":98794,"name":"Angelman syndrome due to maternal 15q11q13 deletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Angelman syndrome due to maternal monosomy 15q11q13"],"definition":null,"note":"This disease is described under Angelman syndrome","url":"https://raremap.alftech.space/d/ORPHA-98794/","orphanet_url":"https://www.orpha.net/en/disease/detail/98794","names":{"fr":{"name":"Syndrome d'Angelman dû à une délétion 15q11q13 d'origine maternelle","synonyms":["Syndrome d'Angelman dû à une monosomie 15q11-13 d'origine maternelle"]},"de":{"name":"Angelman-Syndrom durch maternale Deletion 15q11q13","synonyms":["Angelman-Syndrom durch maternale Monosomie 15q11q13"]},"es":{"name":"Síndrome de Angelman por deleción materna 15q11q13","synonyms":["Síndrome de Angelman por monosomía materna 15q11q13"]},"it":{"name":"Sindrome di Angelman da delezione materna di 15q11q13","synonyms":["Sindrome di Angelman da monosomia materna di 15q11q13"]},"nl":{"name":"Syndroom van Angelman door maternale 15q11q13-deletie","synonyms":["Syndroom van Angelman door maternale monosomie 15q11q13"]},"pt":{"name":"Deleção 15q11.13 materna"},"pl":{"name":"Zespół Angelmana z powodu matczynej delecji 15q11q13","synonyms":["Angelman syndrome due to maternal monosomy 15q11q13"]},"cs":{"name":"Angelmanův syndrom způsobený maternální delecí 15q11q13","synonyms":["Angelmanův syndrom způsobený maternální monozomií 15q11q13"]},"uk":{"name":"Синдром Ангельмана внаслідок материнської делеції 15q11q13","synonyms":["Синдром Ангельмана внаслідок материнської моносомії 15q11q13"]},"zh":{"name":"母源15q11q13缺失型天使综合征","synonyms":["母源性15q11q13单体所致天使综合征"]},"tr":{"name":"Maternal 15q11q13 delesyonuna bağlı Angelman sendromu","synonyms":["Maternal monozomiye bağlı Angelman sendromu 15q11q13"]}},"xrefs":[{"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},{"source":"MONDO","code":"0020302","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5566334","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":72,"name":"Angelman syndrome","classifications":[147,156,181]},{"orpha":262119,"name":"Partial deletion of the long arm of chromosome 15 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"OCA2","name":"OCA2 melanosomal transmembrane protein","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"10905897[PMID]_20301323[PMID]","hgnc":"8101","ensembl":"ENSG00000104044","omim":"611409","loci":["15q12-q13.1"]},{"symbol":"UBE3A","name":"ubiquitin protein ligase E3A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]","hgnc":"12496","ensembl":"ENSG00000114062","omim":"601623","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-03","source":"26040994[PMID]_20301323[PMID]","terms":[{"hpo":"HP:0004485","label":"Cessation of head growth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011203","label":"EEG with abnormally slow frequencies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100738","label":"Abnormal eating behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040082","label":"Happy demeanor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","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 (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent 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(29-5%)","criteria":null},{"hpo":"HP:0010505","label":"Limitation of movement at ankles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040196","label":"Mild microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100023","label":"Recurrent hand flapping","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033063","label":"Shortened sleep cycle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}