Traits

Traits linked to SLC4A11

solute carrier family 4 member 11

The Human Phenotype Ontology links 19 traits to SLC4A11, 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
Corneal guttata	Always
Abnormal corneal endothelium morphology	Very often (80–99%)
Abnormal Descemet membrane morphology	Very often (80–99%)
Corneal dystrophy	Very often (80–99%)
Corneal opacity	Very often (80–99%)
Decreased clarity of vision	Very often (80–99%)
Increased corneal thickness	Very often (80–99%)
Reduced number of corneal endothelial cells	Very often (80–99%)
Visual impairment	Very often (80–99%)
Blurred vision	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Eye movement-induced pain	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Visual loss	Often (30–79%)
Irregular astigmatism	Sometimes (5–29%)
Opacification of the corneal stroma	Not recorded

Laboratory abnormality

Trait	How often it is seen
Corneal stromal edema	Very often (80–99%)
Fluid retention	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)

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 SLC4A11 and how often each is seen. Find out more at hpo.jax.org.

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