Ontology highlight
ABSTRACT:
SUBMITTER: Shah S
PROVIDER: S-EPMC10671420 | biostudies-literature | 2023 Oct
REPOSITORIES: biostudies-literature
Shah Snehal S Sarasua Sara M SM Boccuto Luigi L Dean Brian C BC Wang Liangjiang L
Genes 20231026 11
Phelan-McDermid syndrome (PMS) is a rare genetic neurodevelopmental disorder caused by 22q13 region deletions or <i>SHANK3</i> gene variants. Deletions vary in size and can affect other genes in addition to <i>SHANK3</i>. PMS is characterized by autism spectrum disorder (ASD), intellectual disability (ID), developmental delays, seizures, speech delay, hypotonia, and minor dysmorphic features. It is challenging to determine individual gene contributions due to variability in deletion sizes and cl ...[more]