Preferred Label : Oculocutaneous albinism type 4;
ICD-11 definition : OCA4 is characterized by hypopigmentation of the skin and hair plus the characteristics
of all other types of OCA. The amount of cutaneous pigmentation in OCA4 ranges from
minimal to near normal. Hair colour may darken with time, but does not vary significantly
from childhood to adulthood. It is caused by a mutation in SLC45A2 gene.;
ICD-11 synonym : OCA4 - [Oculocutaneous albinism type 4];
ICD-11 acronym : OCA4;
Origin ID : 1286886811;
Automatic exact mappings (from CISMeF team)
OCA4 is characterized by hypopigmentation of the skin and hair plus the characteristics
of all other types of OCA. The amount of cutaneous pigmentation in OCA4 ranges from
minimal to near normal. Hair colour may darken with time, but does not vary significantly
from childhood to adulthood. It is caused by a mutation in SLC45A2 gene.