Conditions / Syndrome
oculocutaneous albinism type IB
info · Syndrome
An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.
Signs and symptoms
- Albinism
- Hypopigmentation of hair
- Nystagmus
- Hypopigmentation of the skin
- Photophobia
- Fundus hypopigmentation
- Visual impairment
Also known as: Albinism, Yellow Mutant Type; OCA1B