Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New Cases.

Abstract excerpt

Pathogenic variants in the CLCN4 gene are associated with a rare X-linked neurodevelopmental disorder, Raynaud-Claes syndrome, characterized by intellectual disability, epilepsy, language impairment, motor deficits, stereotypies, and structural brain abnormalities. Although heterozygous females are often considered to be only mildly affected, severe phenotypes have also been reported, and the clinical...

Topics

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

• Share to Child
• Share to Chloride Channels
• Share to Mutation