Traits

Traits linked to SLC19A3

solute carrier family 19 member 3

The Human Phenotype Ontology links 54 traits to SLC19A3, 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
Abnormal pyramidal sign	Always
Coma	Always
Dystonia	Always
Inability to walk	Always
Loss of developmental milestones	Always
Loss of speech	Always
Abnormal basal ganglia morphology	Very often (80–99%)
Difficulty articulating speech	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Small basal ganglia	Very often (80–99%)
Abnormal brainstem MRI signal intensity	Often (30–79%)
Action tremor	Often (30–79%)
Ataxia	Often (30–79%)
Babinski sign	Often (30–79%)
Confusion	Often (30–79%)
Drowsiness	Often (30–79%)
Epilepsy	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Inability to speak	Often (30–79%)
Inappropriate crying	Often (30–79%)
Increased reflexes	Often (30–79%)
Infantile encephalopathy	Often (30–79%)
Irritability	Often (30–79%)
Lethargy	Often (30–79%)
Loss of consciousness	Often (30–79%)
Poor speech	Often (30–79%)
Restlessness	Often (30–79%)
Tetraparesis	Often (30–79%)
Chorea	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Repeated seizures without recovery between them	Sometimes (5–29%)
Truncal titubation	Sometimes (5–29%)
Abnormal craniofacial muscle tone	Not recorded
Abnormal pyramidal tract morphology	Not recorded
Encephalopathy	Not recorded
Partial paralysis of legs	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cogwheel rigidity	Very often (80–99%)
Frequent falls	Often (30–79%)
Opisthotonus	Often (30–79%)
Decreased muscle tone in infant	Sometimes (5–29%)
Functional motor deficit	Sometimes (5–29%)
Spastic tetraplegia	Sometimes (5–29%)
Low muscle tone in trunk	Not recorded
Rigidity	Not recorded
Spasticity and rigidity of muscles	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Not recorded
Paralysis or weakness of muscles within or surrounding outer part of eye	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Often (30–79%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Always
Vomiting	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fever	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 SLC19A3 and how often each is seen. Find out more at hpo.jax.org.

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