Traits

Traits linked to MECR

mitochondrial trans-2-enoyl-CoA reductase

The Human Phenotype Ontology links 51 traits to MECR, 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
Difficulty articulating speech	Always
Headache	Always
Dystonia	Very often (80–99%)
Striatal T2 hyperintensity	Very often (80–99%)
Abnormal craniofacial muscle tone	Often (30–79%)
Abnormal gait	Often (30–79%)
Disorder of involuntary muscle movements	Often (30–79%)
Limb dystonia	Often (30–79%)
Motor delay	Often (30–79%)
Ataxia	Sometimes (5–29%)
Axial dystonia	Sometimes (5–29%)
Babinski sign	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Clumsiness	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Delayed motor skills	Sometimes (5–29%)
Elevated brain lactate level by MRS	Sometimes (5–29%)
Hemidystonia	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Paroxysmal dyskinesia	Sometimes (5–29%)
Involuntary movements	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blind spot located at fixation point	Always
Color blindness	Always
Optic atrophy	Always
Temporal optic disc pallor	Always
Visual loss	Always
Decreased clarity of vision	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Visual impairment	Often (30–79%)
Abnormality of visual evoked potentials	Sometimes (5–29%)
Esophoria	Sometimes (5–29%)
Optic disc pallor	Sometimes (5–29%)
Pigmentary retinopathy	Sometimes (5–29%)
Slow eye movements	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Limb contractures	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Sometimes (5–29%)
Decreased activity of mitochondrial complex II	Sometimes (5–29%)
Decreased activity of mitochondrial complex IV	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Eyelid spasm	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	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 MECR and how often each is seen. Find out more at hpo.jax.org.

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