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Traits

Traits linked to NDUFB3

NADH:ubiquinone oxidoreductase subunit B3

The Human Phenotype Ontology links 40 traits to NDUFB3, 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
Global developmental delayAlways
AtaxiaVery often (80–99%)
Focal T2 hyperintense brainstem lesionVery often (80–99%)
LethargyVery often (80–99%)
LeukodystrophyVery often (80–99%)
LeukoencephalopathyVery often (80–99%)
Poor eye contactVery often (80–99%)

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%)

Abnormality of the musculoskeletal system

TraitHow often it is seen
Low muscle toneAlways
Muscle tissue diseaseAlways
Mitochondrial myopathyVery often (80–99%)
Muscle weaknessVery often (80–99%)
Poor head controlVery often (80–99%)

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%)

Abnormal cellular phenotype

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

Abnormality of the digestive system

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

Abnormality of prenatal development or birth

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

Growth abnormality

TraitHow often it is seen
Faltering weightAlways
Prenatal growth deficiencyAlways

Abnormality of head or neck

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

Abnormality of the cardiovascular system

TraitHow often it is seen
Enlarged and thickened heart muscleVery often (80–99%)

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 NDUFB3 and how often each is seen. Find out more at hpo.jax.org.

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