Conditions / Syndrome
oculocutaneous albinism type V
info · Syndrome
An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24.
Signs and symptoms
- Albinism
- Nystagmus
- Hypoplasia of the fovea
- Photophobia
Also known as: OCA5