Ontology highlight
ABSTRACT:
SUBMITTER: Tekendo-Ngongang C
PROVIDER: S-EPMC7450984 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20200213 4
MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected individuals includes infantile hypotonia, severe intellectual disability, very poor-to-absent speech, progressive spasticity, seizures, and recurrent infections. The condition is 100% penetrant in males, with observed variability in phenotypic expression ...[more]