Traits

Traits linked to SLC17A5

solute carrier family 17 member 5

The Human Phenotype Ontology links 42 traits to SLC17A5, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Not recorded
Degeneration of cerebrum	Not recorded
Delayed speech and language development	Not recorded
Difficulty articulating speech	Not recorded
Epilepsy	Not recorded
Global developmental delay	Not recorded
Inability to walk	Not recorded
Intellectual disability	Not recorded
Involuntary writhing movements in fingers, hands, toes, and feet	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Not recorded
Eye folds	Not recorded
Gum enlargement	Not recorded
High palate	Not recorded
Increased thickness of skull cap	Not recorded
J-shaped sella turcica	Not recorded
Nasal tip, upturned	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of the chest	Not recorded
Generalized decreased muscle tone	Not recorded
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Low muscle tone	Not recorded
Osteopenia	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Not recorded
Enlarged heart	Not recorded
Increased spleen size	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded
Outward facing eye ball	Not recorded

Laboratory abnormality

Trait	How often it is seen
Conjugated hyperbilirubinemia	Not recorded
Hydrops fetalis	Not recorded
Laboratory abnormality	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormal feet structure	Not recorded
Irregular wide portion of a long bone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Not recorded
Enlarged liver	Not recorded

Abnormality of the integument

Trait	How often it is seen
Fair hair	Not recorded
Patchy lightened skin	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded
Growth delay	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Vacuolated lymphocytes	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Not recorded

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 SLC17A5 and how often each is seen. Find out more at hpo.jax.org.

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