Carvajal syndrome

Overview

autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has material basis in homozygous mutation in the DSP gene on chromosome 6p24

Available Treatments (0)

Clinical Presentation

Signs and symptoms associated with Carvajal syndrome, sourced from HPO and Orphanet clinical annotations.

Classification & Codes