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Hypotrichosis 5

Synonyms
MARIE UNNA HEREDITARY HYPOTRICHOSIS 2

Summary

Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by Zhang et al., 2012). For a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 (146550). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EPS8R3, HYPT5, MUHH2, EPS8L3
    Summary: EPS8 signaling adaptor L3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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