Traits

Traits linked to SLC25A21

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The Human Phenotype Ontology links 17 traits to SLC25A21, 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
Distal muscle wasting	Always
Proximal neurogenic muscle weakness	Always
Scoliosis	Always
Weakness of outermost muscles	Always

Abnormality of the nervous system

Trait	How often it is seen
Absent reflexes	Always
Axonal degeneration	Always
Clonus	Always
Falls	Always

Abnormality of head or neck

Trait	How often it is seen
Tongue twitching	Always
Weakness of facial musculature	Always

Abnormality of limbs

Trait	How often it is seen
Foot drop	Always
Hand muscle degeneration	Always

Laboratory abnormality

Trait	How often it is seen
Elevated urinary quinolinic acid level	Always
High urine lactic acid levels	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Microcytic anemia	Always

Abnormality of the respiratory system

Trait	How often it is seen
Reduced forced vital capacity	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

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 SLC25A21 and how often each is seen. Find out more at hpo.jax.org.

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