GTR Home > Conditions/Phenotypes > Albinism, oculocutaneous, type V

Summary

Oculocutaneous albinism is a genetically heterogeneous disorder manifested as a loss of pigmentation in the eyes, skin, and hair (summary by Kausar et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of oculocutaneous albinism, see OCA1 (203100). [from OMIM]

Available tests

4 tests are in the database for this condition.

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Associated cytogenetic location

  • Location: 4q24

Clinical features

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