cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

Findings

No curated finding names cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• erythrokeratoderma
• hereditary skin disorder

Resolves to: cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

Also called

dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesisdilated cardiomyopathy with wooly hair, keratoderma, and tooth agenesisEKC syndromeerythrokeratodermia-cardiomyopathy syndrome