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Traits
Traits linked to NDUFS2
NADH:ubiquinone oxidoreductase core subunit S2
The Human Phenotype Ontology links 73 traits to NDUFS2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Centrocecal scotoma | Always |
| Optic atrophy | Always |
| Progressive loss of vision | Always |
| Red green color blindness | Always |
| Cross-eyed | Very often (80–99%) |
| Damaged optic nerve | Very often (80–99%) |
| Drooping upper eyelid | Very often (80–99%) |
| Involuntary, rapid, rhythmic eye movements | Very often (80–99%) |
| Optic disc pallor | Very often (80–99%) |
| Paroxysmal involuntary eye movements | Very often (80–99%) |
| Slow decrease in sharpness of vision | Very often (80–99%) |
| Blind spot located at fixation point | Often (30–79%) |
| Blurred vision | Often (30–79%) |
| Horizontal nystagmus | Often (30–79%) |
| Abnormal color vision | Sometimes (5–29%) |
| Abnormal electroretinogram | Sometimes (5–29%) |
| Abnormality of visual evoked potentials | Sometimes (5–29%) |
| Blindness | Sometimes (5–29%) |
| Reduced contrast sensitivity | Sometimes (5–29%) |
| Retinal nerve fiber edema | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Ataxia | Very often (80–99%) |
| Encephalopathy | Very often (80–99%) |
| Focal T2 hyperintense brainstem lesion | Very often (80–99%) |
| Global developmental delay | Very often (80–99%) |
| Lethargy | Very often (80–99%) |
| Leukodystrophy | Very often (80–99%) |
| Leukoencephalopathy | Very often (80–99%) |
| Poor eye contact | Very often (80–99%) |
| Motor delay | Often (30–79%) |
| Abnormal pyramidal sign | Sometimes (5–29%) |
| Increased reflexes | Sometimes (5–29%) |
| Loss of developmental milestones | Sometimes (5–29%) |
| Pauses in breathing while sleeping | Sometimes (5–29%) |
| Peripheral neuropathy | Sometimes (5–29%) |
| Postural tremor | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
| Brain degeneration | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Very often (80–99%) |
| Mitochondrial myopathy | Very often (80–99%) |
| Muscle weakness | Very often (80–99%) |
| Poor head control | Very often (80–99%) |
| Generalized decreased muscle tone | Often (30–79%) |
| Low muscle tone in trunk | Often (30–79%) |
| Muscle degeneration | Sometimes (5–29%) |
| Muscle tissue disease | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Increased lactate in body | Always |
| Increased circulating pyruvate concentration | Very often (80–99%) |
| Increased CSF lactate | Very often (80–99%) |
| Low blood sugar | Very often (80–99%) |
| Higher than normal levels of lactate in blood | Often (30–79%) |
| Diabetes mellitus | Sometimes (5–29%) |
| Metabolic acidosis | Sometimes (5–29%) |
| Severe lactic acidosis | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Enlarged and thickened heart muscle | Very often (80–99%) |
| Retinal telangiectasia | Often (30–79%) |
| Retinal vascular tortuosity | Often (30–79%) |
| Abnormal heart rate | Sometimes (5–29%) |
| Left ventricular hypertrophy | Sometimes (5–29%) |
| Ventricular preexcitation | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Decreased activity of mitochondrial complex I | Always |
| Abnormal mitochondria in muscle tissue | Very often (80–99%) |
| Mitochondrial respiratory chain defects | Very often (80–99%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged liver | Very often (80–99%) |
| Vomiting | Very often (80–99%) |
| Feeding difficulties | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Respiratory function loss | Very often (80–99%) |
| Apnea | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Very often (80–99%) |
| Prenatal growth deficiency | Very often (80–99%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Fetal distress | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Sensorineural hearing impairment | Very often (80–99%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Proximal tubulopathy | Very 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 NDUFS2 and how often each is seen. Find out more at hpo.jax.org.
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