" /> Cardiomyopathy, dilated, with woolly hair and keratoderma - CISMeF





Preferred Label : Cardiomyopathy, dilated, with woolly hair and keratoderma;

Symbol : DCWHK;

CISMeF acronym : DCWHK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Carvajal syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the desmoplakin gene (DSP, 125647.0002);

Prefixed ID : #605676;

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29/07/2025


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