Oculocutaneous albinism type 6

Definition

A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.

Also known as OCA6 — per MONDO

Also identified as

• DOID 0080614 per MONDO
• OMIM 113750 per MONDO
• Orphanet 370097 per MONDO
• SCTID 722058005 per MONDO
• UMLS C3805375 per MONDO