{"title":"Angel man Syndrome","authors":"R. Kumar, Anushi Singh","doi":"10.7439/IJASR.V3I8.4335","DOIUrl":null,"url":null,"abstract":"Angel man syndrome is a rare genetic and neurological disorder which is characterized by severe developmental delays and learning disabilities. Although, those diagnosed with the syndrome may be unable to speak, but many gradually learn to communicate through other means such as sign language. Additional symptoms also include seizures, sleep disorders and feeding difficulties. Some children with Angel man syndrome may have distinctive facial features, but mainly facial features reflect the normal parental traits. Angel man syndrome is caused by deletion or abnormal expression of the UBE3A gene.","PeriodicalId":119953,"journal":{"name":"International Journal of Advances in Scientific Research","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2017-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Advances in Scientific Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.7439/IJASR.V3I8.4335","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
Angel man syndrome is a rare genetic and neurological disorder which is characterized by severe developmental delays and learning disabilities. Although, those diagnosed with the syndrome may be unable to speak, but many gradually learn to communicate through other means such as sign language. Additional symptoms also include seizures, sleep disorders and feeding difficulties. Some children with Angel man syndrome may have distinctive facial features, but mainly facial features reflect the normal parental traits. Angel man syndrome is caused by deletion or abnormal expression of the UBE3A gene.