Oculocutaneous albinism type 4 (Q90691)
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OCA4 is characterised by hypopigmentation of the skin and hair plus the characteristics of all other types of OCA. The amount of cutaneous pigmentation in OCA4 ranges from minimal to near normal. Hair colour may darken with time, but does not vary significantly from childhood to adulthood. It is caused by a mutation in SLC45A2 gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1286886811 |
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| English | Oculocutaneous albinism type 4 |
OCA4 is characterised by hypopigmentation of the skin and hair plus the characteristics of all other types of OCA. The amount of cutaneous pigmentation in OCA4 ranges from minimal to near normal. Hair colour may darken with time, but does not vary significantly from childhood to adulthood. It is caused by a mutation in SLC45A2 gene. |
