CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder
A syndromic disease caused by a variation in the CRYAB gene, and characterized by a spectrum of phenotypes including cardiomyopathy, cataract, and/or myopathy.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder
exact
alpha-B crystallinopathy
related
SPBC4B4.01c SPBC3E7.02c SPCC338.06c