Traits

Traits linked to SLC45A2

solute carrier family 45 member 2

The Human Phenotype Ontology links 19 traits to SLC45A2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Abnormal retinal pigmentation	Very often (80–99%)
Decreased clarity of vision	Very often (80–99%)
Hypoplasia of the fovea	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Absent pigmentation in the eye	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Light eye color	Often (30–79%)
Optic nerve misrouting	Often (30–79%)
Blue eyes	Not recorded
Fundus hypopigmentation	Not recorded
Macular hypoplasia	Not recorded
Visual impairment	Not recorded

Abnormality of the integument

Trait	How often it is seen
Albinism	Often (30–79%)
Loss of hair color	Often (30–79%)
Patchy lightened skin	Often (30–79%)
Thickened skin	Often (30–79%)
White hair	Often (30–79%)
Mole	Rarely (1–4%)
Skin cancer	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SLC45A2 and how often each is seen. Find out more at hpo.jax.org.

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