| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. (Orphanet Rare Disease Ontology, Orphanet_79435) |
| External Link | http://www.omim.org/entry/606574 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Oculocutaneous albinism type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| SLC45A2 | solute carrier family 45, member 2 |
