Traits

Traits linked to SLC52A3

solute carrier family 52 member 3

The Human Phenotype Ontology links 45 traits to SLC52A3, 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
Abnormality of balance	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Brisk reflexes	Sometimes (5–29%)
Encephalopathy	Sometimes (5–29%)
Instability or lack of coordination of central trunk muscles	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Abnormality of the cerebellum	Not recorded
Clumsiness	Not recorded
Cranial nerve motor loss	Not recorded
Cranial nerve paralysis	Not recorded
Generalized hyperreflexia	Not recorded
Inability to move vocal cords	Not recorded
Increased reflexes	Not recorded
Knee clonus	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bulbar palsy	Often (30–79%)
Muscle weakness	Often (30–79%)
Generalized muscle weakness	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)
Hunched back	Not recorded
Neck muscle weakness	Not recorded
Scoliosis	Not recorded
Weak diaphragm	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Noisy breathing	Often (30–79%)
Respiratory failure requiring assisted ventilation	Sometimes (5–29%)
Breathing difficulties	Not recorded
Breathing difficulty	Not recorded
Nocturnal hypoventilation	Not recorded
Progressive inspiratory stridor	Not recorded
Respiratory function loss	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Sometimes (5–29%)
Tongue twitching	Sometimes (5–29%)
Wasting of the tongue	Sometimes (5–29%)
Facial diplegia	Not recorded
Myopathic facies	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormal rhythmic movements of ankle	Sometimes (5–29%)
Hand muscle degeneration	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Sensorineural hearing impairment	Not recorded

Abnormality of the eye

Trait	How often it is seen
Paralysis or weakness of muscles within or surrounding outer part of eye	Sometimes (5–29%)
Drooping upper eyelid	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Not recorded

Abnormality of the voice

Trait	How often it is seen
Weak voice	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 SLC52A3 and how often each is seen. Find out more at hpo.jax.org.

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