oculocutaneous albinism type 5
Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.
MONDO:0018910
oculocutaneous albinism
is_a
OCA5
exact
albinism, oculocutaneous, type V
related