Traits

Traits linked to SLC4A2

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The Human Phenotype Ontology links 14 traits to SLC4A2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cortical sclerosis	Always
Harder, denser, fracture-prone bones	Always
Increased bone mineral density	Always
Spontaneous fracture	Always

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Always
Elevated creatinine	Always
Increased circulating potassium concentration	Always

Abnormality of the eye

Trait	How often it is seen
Decreased clarity of vision	Always
Papilledema	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Always

Abnormality of head or neck

Trait	How often it is seen
Thick skull base	Always

Abnormality of the endocrine system

Trait	How often it is seen
Elevated blood parathyroid hormone level	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Stage 3 chronic kidney disease	Always

Growth abnormality

Trait	How often it is seen
Growth delay as children	Always

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 SLC4A2 and how often each is seen. Find out more at hpo.jax.org.

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