oculocutaneous albinism type 4
ORPHA: 79435
Overview
oculocutaneous albinism that has material basis in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with oculocutaneous albinism type 4, sourced from HPO and Orphanet clinical annotations.
NystagmusReduced visual acuityAbnormal retinal pigmentationHypoplasia of the foveaPhotophobiaHypopigmentation of the skinAlbinismThickened skinOcular albinismHypopigmentation of hairIris hypopigmentationWhite hairOptic nerve misroutingNevusNeoplasm of the skin
Classification & Codes
Orphanet Code
ORPHA:79435oculocutaneous albinism type 4
| Orphanet | ORPHA:79435 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO