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Oculocutaneous albinism type 4

ORPHA:79435· ICD-10 E70.3

Definition

A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.

Prevalence
1-9 / 100 000
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal