Traits

Traits linked to MT-ND4L

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

The Human Phenotype Ontology links 26 traits to MT-ND4L, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Slow decrease in sharpness of vision	Very often (80–99%)
Blind spot located at fixation point	Often (30–79%)
Blurred vision	Often (30–79%)
Centrocecal scotoma	Often (30–79%)
Damaged optic nerve	Often (30–79%)
Optic atrophy	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Abnormal electroretinogram	Sometimes (5–29%)
Abnormality of visual evoked potentials	Sometimes (5–29%)
Reduced contrast sensitivity	Sometimes (5–29%)
Retinal nerve fiber edema	Sometimes (5–29%)
Leber optic atrophy	Not recorded
Visual loss	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Postural tremor	Sometimes (5–29%)
Dystonia	Not recorded
Peripheral nerve disease	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Retinal telangiectasia	Often (30–79%)
Retinal vascular tortuosity	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)
Ventricular preexcitation	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Mitochondrial respiratory chain defects	Very often (80–99%)

Abnormality of head or neck

Trait	How often it is seen
Central retinal vessel vascular tortuosity	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle tissue disease	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 MT-ND4L and how often each is seen. Find out more at hpo.jax.org.

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