Traits

Traits linked to NDUFA6

NADH:ubiquinone oxidoreductase subunit A6

The Human Phenotype Ontology links 67 traits to NDUFA6, 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
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%)
Epilepsy	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Abnormal craniofacial muscle tone	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Motor regression	Sometimes (5–29%)
Reduced cerebral white matter volume	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Inability to speak	Not recorded
Poor speech	Not recorded
Worsening neurological symptoms	Not recorded

Abnormality of the eye

Trait	How often it is seen
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%)
Optic atrophy	Often (30–79%)
Blindness	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Increased circulating pyruvate concentration	Very often (80–99%)
Increased CSF lactate	Very often (80–99%)
Increased lactate in body	Very often (80–99%)
Low blood sugar	Very often (80–99%)
Diabetes mellitus	Sometimes (5–29%)
High blood ammonia levels	Sometimes (5–29%)
Higher than normal levels of lactate in blood	Sometimes (5–29%)
Metabolic acidosis	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	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)

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%)
Poor swallowing	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%)
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Small for gestational age	Often (30–79%)

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%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Proximal tubulopathy	Very often (80–99%)
Hypospadias	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Sometimes (5–29%)

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 NDUFA6 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