CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder

Definition

A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy.

Also known as CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder — per MONDO