oculocutaneous albinism type 3 (OCA3)

Genetics

• associated with defects in TYRP1

Clinical manifestations

• form of albinism with only moderate reduction of pigment
• individuals with OCA3 are recognized by their reddish skin & hair color

More general terms

• oculocutaneous albinism

Database

• OMIM: https://mirror.omim.org/entry/203290