Traits

Traits linked to NDUFA13

NADH:ubiquinone oxidoreductase subunit A13

The Human Phenotype Ontology links 23 traits to NDUFA13, 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
Global developmental delay	Always
Akinesia	Often (30–79%)
Choreoathetosis	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Disorder of involuntary muscle movements	Often (30–79%)
Generalized-onset seizure	Often (30–79%)
Instability or lack of coordination of central trunk muscles	Often (30–79%)
Poor eye contact	Often (30–79%)
Poor speech	Not recorded

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Always
Optic disc pallor	Always
Slow eye movements	Often (30–79%)
Damaged optic nerve	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Lower limb spasticity	Often (30–79%)
Poor head control	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased blood alanine	Always

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)

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 NDUFA13 and how often each is seen. Find out more at hpo.jax.org.

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