Definition

A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2.

Synonyms

keratoderma with woolly hair type IV
PPKWH

Cross References

Parent Terms

Child Terms

None

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Associated Genes

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palmoplantar keratoderma and woolly hair

palmoplantar keratoderma and woolly hair

Associated Genes

Associated Alleles

Associated Models