Traits

Traits linked to NDUFS1

NADH:ubiquinone oxidoreductase core subunit S1

The Human Phenotype Ontology links 58 traits to NDUFS1, by body system: features seen in people with one of the gene's rare conditions.

NDUFS1

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%)
Dystonia	Often (30–79%)
Epilepsy	Often (30–79%)
Focal T2 hyperintense basal ganglia lesion	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Babinski sign	Not recorded
Brain degeneration	Not recorded
Degeneration of cerebellum	Not recorded
Increased reflexes	Not recorded
Irritability	Not recorded
Poor speech	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%)
Eye muscle paralysis	Often (30–79%)
Optic atrophy	Often (30–79%)
Blindness	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased CSF lactate	Always
Increased circulating pyruvate concentration	Very often (80–99%)
Increased lactate in body	Very often (80–99%)
Low blood sugar	Very often (80–99%)
Metabolic acidosis	Often (30–79%)
Diabetes mellitus	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Mitochondrial myopathy	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Poor head control	Very often (80–99%)
Low muscle tone in trunk	Often (30–79%)
Generalized decreased muscle tone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Very often (80–99%)
Vomiting	Very often (80–99%)
Episodic vomiting	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)
Poor swallowing	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Growth delay	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 head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Progressively abnormally small cranium	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Very often (80–99%)
Apnea	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	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 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 NDUFS1 and how often each is seen. Find out more at hpo.jax.org.

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