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oculocutaneous albinism type 4 (OCA4)
disorder of pigmentation in the skin, hair, & eyes
Pathology:
- diminished biosynthesis of melanin in the skin, hair & eyes
Genetics:
- autosomal recessive
- associated with defects in SLC45A2
Clinical manifestations:
- diminished visual acuity
General
oculocutaneous albinism
Database Correlations
OMIM 606574
References
OMIM :accession 606574