[Clinical phenotype and genetic analysis of a child with Autosomal dominant intellectual developmental disorder type 5 caused by SYNGAP1 gene variant: A case report and literature review].

Abstract excerpt

OBJECTIVE: To delineate the clinical and genetic features of a Chinese girl harboring a rare de novo variant of SYNGAP1 associated with Mental retardation, autosomal dominant 5 (MRD5), and to conduct a comprehensive genotype-phenotype correlation analysis within the Chinese population through an extensive literature review. METHODS: A 5-year-old girl presenting with seizures without an obvious cause was enrolled...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to Exome Sequencing