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GTR Home > Conditions/Phenotypes > Woolly hair-skin fragility syndrome

Woolly hair-skin fragility syndrome

Summary

Woolly hair-skin fragility syndrome (WHSF) is characterized by woolly hair texture and slow hair growth, as well as superficial skin fragility which is present at birth or appears in the neonatal period and then resolves or persists only as minor palmoplantar skin peeling. The disorder appears to predominantly affect hair, and to a lesser extent skin (Jackson et al., 2023). [from OMIM]

Available tests

51 tests are in the database for this condition.

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Clinical tests (51 available)

Molecular Genetics Tests

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Clinical features

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Imported from Human Phenotype Ontology (HPO)

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