Skip to content
Use your HSA or FSA funds

Traits

Traits linked to NDUFV2

NADH:ubiquinone oxidoreductase core subunit V2

The Human Phenotype Ontology links 43 traits to NDUFV2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitHow often it is seen
EncephalopathyAlways
AtaxiaVery often (80–99%)
Focal T2 hyperintense brainstem lesionVery often (80–99%)
Global developmental delayVery often (80–99%)
LethargyVery often (80–99%)
LeukodystrophyVery often (80–99%)
LeukoencephalopathyVery often (80–99%)
Poor eye contactVery often (80–99%)
Brain degenerationNot recorded
Loss of developmental milestonesNot recorded

Abnormality of the eye

TraitHow often it is seen
Cross-eyedVery often (80–99%)
Damaged optic nerveVery often (80–99%)
Drooping upper eyelidVery often (80–99%)
Involuntary, rapid, rhythmic eye movementsVery often (80–99%)
Optic disc pallorVery often (80–99%)
Paroxysmal involuntary eye movementsVery often (80–99%)
BlindnessSometimes (5–29%)
Optic atrophyNot recorded

Abnormality of the musculoskeletal system

TraitHow often it is seen
Low muscle tone in trunkAlways
Low muscle toneVery often (80–99%)
Mitochondrial myopathyVery often (80–99%)
Muscle weaknessVery often (80–99%)
Poor head controlVery often (80–99%)
Generalized decreased muscle toneNot recorded
Involuntary muscle stiffness, contraction, or spasmNot recorded

Laboratory abnormality

TraitHow often it is seen
Increased lactate in bodyAlways
Increased circulating pyruvate concentrationVery often (80–99%)
Increased CSF lactateVery often (80–99%)
Low blood sugarVery often (80–99%)
Diabetes mellitusSometimes (5–29%)

Abnormality of the digestive system

TraitHow often it is seen
Feeding difficultiesAlways
Enlarged liverVery often (80–99%)
VomitingVery often (80–99%)

Abnormal cellular phenotype

TraitHow often it is seen
Decreased activity of mitochondrial complex IAlways
Abnormal mitochondria in muscle tissueVery often (80–99%)

Growth abnormality

TraitHow often it is seen
Faltering weightAlways
Prenatal growth deficiencyVery often (80–99%)

Abnormality of head or neck

TraitHow often it is seen
Abnormally small headSometimes (5–29%)

Abnormality of prenatal development or birth

TraitHow often it is seen
Fetal distressSometimes (5–29%)

Abnormality of the cardiovascular system

TraitHow often it is seen
Enlarged and thickened heart muscleAlways

Abnormality of the ear

TraitHow often it is seen
Sensorineural hearing impairmentVery often (80–99%)

Abnormality of the genitourinary system

TraitHow often it is seen
Proximal tubulopathyVery often (80–99%)

Abnormality of the respiratory system

TraitHow often it is seen
Respiratory function lossVery often (80–99%)

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 NDUFV2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test