skin fragility-woolly hair-palmoplantar keratoderma syndrome

Findings

No curated finding names skin fragility-woolly hair-palmoplantar keratoderma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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

• autosomal recessive disease
• diffuse palmoplantar keratoderma
• syndromic disease

Resolves to: skin fragility-woolly hair-palmoplantar keratoderma syndrome

Also called

skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome