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GTR Home > Conditions/Phenotypes > Wooly hair-palmoplantar keratoderma syndrome

Wooly hair-palmoplantar keratoderma syndrome

Synonyms
Palmoplantar keratoderma and woolly hair; Woolly hair-palmoplantar keratoderma syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Palmoplantar keratoderma and woolly hair (PPKWH) is an autosomal recessive disorder characterized by the presence of these cardinal features and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram. Palmoplantar keratoderma is of the striate type; hair is generally sparse; and leukonychia is present (Ramot et al., 2014). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANKRD25, MXRA3, NPHS16, PPKWH, SIP, KANK2
    Summary: KN motif and ankyrin repeat domains 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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