Traits

Traits linked to SLC5A6

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The Human Phenotype Ontology links 28 traits to SLC5A6, 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
Cerebral palsy	Always
Degeneration of cerebrum	Always
Global developmental delay	Always
Hypoplasia of the pons	Always
More grooves in brain	Always
Underdevelopment of part of brain called corpus callosum	Always
Degeneration of cerebellum	Often (30–79%)
Epilepsy	Often (30–79%)
Difficulty performing quick and alternating movements	Sometimes (5–29%)
Lack of coordination of movement	Sometimes (5–29%)
Peripheral neuropathy	Not recorded

Abnormality of limbs

Trait	How often it is seen
Thenar muscle atrophy	Very often (80–99%)
Areflexia of lower limbs	Often (30–79%)
Clubbing of fingers	Often (30–79%)
Distal lower limb muscle weakness	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Poor head control	Always
Interosseus muscle atrophy	Very often (80–99%)
Fiber type grouping	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Gastrostomy tube feeding in infancy	Always
Episodic vomiting	Often (30–79%)
Inguinal hernia	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Enlarged cisterna magna	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgG concentration	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Stretched and thinned heart muscle	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always

Abnormality of the integument

Trait	How often it is seen
Premature graying of hair	Sometimes (5–29%)

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 SLC5A6 and how often each is seen. Find out more at hpo.jax.org.

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