Traits

Traits linked to SLC52A2

solute carrier family 52 member 2

The Human Phenotype Ontology links 25 traits to SLC52A2, 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
Kyphoscoliosis	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Bulbar palsy	Not recorded
Diffuse skeletal muscle wasting	Not recorded
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded
Neck muscle weakness	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Aggressive behavior	Sometimes (5–29%)
Absent reflexes	Not recorded
Ataxia	Not recorded
Clumsiness	Not recorded
Cranial nerve paralysis	Not recorded
Decreased muscle movement	Not recorded
Nerve damage causing decreased feeling and movement	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Not recorded
Tongue twitching	Not recorded

Abnormality of limbs

Trait	How often it is seen
Limb muscle weakness	Not recorded
Split hand	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Not recorded

Laboratory abnormality

Trait	How often it is seen
Organic aciduria	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 SLC52A2 and how often each is seen. Find out more at hpo.jax.org.

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