Phenotypes associated with the disease oculocutaneous albinism type 8 (OMIM:619165):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:33100333)
- Hypopigmentation of hair (HP:0005599). Evidence: PCS. Frequency: 2/2. (PMID:33100333)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 2/2. (PMID:33100333)
- Iris transillumination defect (HP:0012805): Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. Evidence: PCS. Frequency: 2/2. (PMID:33100333)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: PCS. Frequency: 2/2. (PMID:33100333)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 1/2. (PMID:33100333)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: PCS. Frequency: 1/2. (PMID:33100333)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:33100333)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/2. (PMID:33100333)
- Chorioretinal hypopigmentation (HP:0040030): Focal or global or heterogeneous loss of choroidal and retinal pigment epithelium (RPE) pigmentation in the absence of atrophy. Evidence: PCS. Frequency: 2/2. (PMID:33100333)