Oculocutaneous albinism type 2 (Q90683)
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OCA-2 is caused by mutations in the OCA2 (P) gene. Affected individuals have pigmented hair at birth and may develop iris pigmentation, pigmented melanocytic naevi and freckles later in life.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2019316252 |
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| English | Oculocutaneous albinism type 2 |
OCA-2 is caused by mutations in the OCA2 (P) gene. Affected individuals have pigmented hair at birth and may develop iris pigmentation, pigmented melanocytic naevi and freckles later in life. |
