Ontology highlight
ABSTRACT:
SUBMITTER: Laje G
PROVIDER: S-EPMC2967410 | biostudies-literature | 2010 Nov
REPOSITORIES: biostudies-literature
Laje Gonzalo G Morse Rebecca R Richter William W Ball Jonathan J Pao Maryland M Smith Ann C M AC
American journal of medical genetics. Part C, Seminars in medical genetics 20101101 4
Smith-Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with a confirmed deletion (del 17p11.2). Parents/caregivers were asked to complete the Social Responsivenes ...[more]