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Oculocutaneous albinism type 4
rareOculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
- Identifiers
- MONDO:0011683 OMIM:606574Orphanet:79435
- Causal genes
- SLC45A2
- Part of
- Oculocutaneous albinism
- Also known as
- albinism, oculocutaneous, type IV · OCA4 · oculocutaneous albinism caused by mutation in SLC45A2 · SLC45A2 oculocutaneous albinism
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