oculocutaneous albinism type 8
MONDO:0030899Mondo
Findings
No curated finding names oculocutaneous albinism type 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chorioretinal hypopigmentationHPOHP:0040030
- 2 of 2 reported patients
- Hypopigmentation of hairHPOHP:0005599
- 2 of 2 reported patients
- Hypopigmentation of the skinHPOHP:0001010
- 2 of 2 reported patients
- Iris transillumination defectHPOHP:0012805
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- Hypoplasia of the foveaHPOHP:0007750
- 1 of 2 reported patients
- PhotophobiaHPOHP:0000613
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DCTHGNC:2709
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: oculocutaneous albinism type 8
- Also called
- OCA8oculocutaneous albinism, type 8oculocutaneous albinism, type VIII