Traits

Traits linked to NDUFA2

NADH:ubiquinone oxidoreductase subunit A2

The Human Phenotype Ontology links 27 traits to NDUFA2, 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
Coma	Always
Degeneration of cerebrum	Always
Global developmental delay	Always
Grand mal seizures	Always
Intellectual disability	Always
Loss of developmental milestones	Always
Underdevelopment of part of brain called corpus callosum	Always
Encephalopathy	Often (30–79%)
Focal motor seizure	Often (30–79%)
Generalized dystonia	Often (30–79%)
Irritability	Often (30–79%)
Reduced cerebral white matter volume	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Always
Heart stops beating	Always
Slow heartbeats	Always

Abnormality of the digestive system

Trait	How often it is seen
Vomiting	Always
Enlarged liver	Often (30–79%)
Feeding difficulties	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Acidosis	Always
Fever	Often (30–79%)
Metabolic acidosis	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Carnitine deficiency	Often (30–79%)

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	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 NDUFA2 and how often each is seen. Find out more at hpo.jax.org.

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