A Novel Variant of CACNA1C Subtype Related Disorders: A Neonate with Dysmorphism and Distal Skeletal Defects

Abstract

The mutation of CACNA1C gene on chromosome 12p13, has known to be associated with disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS). We report neonate with a novel variant of CACNA1C subtype related disorder with dysmorphisms and distal skeletal dysplasia.