Traits

Traits linked to OPA3

outer mitochondrial membrane lipid metabolism regulator OPA3

The Human Phenotype Ontology links 52 traits to OPA3, 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
Choreoathetosis	Very often (80–99%)
Absent reflexes	Often (30–79%)
Ataxia	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Intellectual disability	Often (30–79%)
Pins and needles feeling	Often (30–79%)
Postural tremor	Often (30–79%)
Somatic sensory dysfunction	Often (30–79%)
Unsteady walk	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
Positive Romberg sign	Sometimes (5–29%)
Reading disability	Sometimes (5–29%)
Resting tremor	Sometimes (5–29%)
Abnormality of extrapyramidal motor function	Not recorded
Babinski sign	Not recorded
Chorea	Not recorded
Cognitive impairment	Not recorded
Increased reflexes	Not recorded
Tremor	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blind spot	Always
Optic atrophy	Always
Visual impairment	Always
Clouding of the lens of the eye	Very often (80–99%)
Decreased clarity of vision	Very often (80–99%)
Blind spot located at fixation point	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic disc pallor	Often (30–79%)
Posterior cortical cataract	Often (30–79%)
Anterior cortical cataract	Sometimes (5–29%)
Anterior subcapsular cataract	Sometimes (5–29%)
Blindness	Sometimes (5–29%)
Blue yellow color blindness	Sometimes (5–29%)
Cerulean cataract	Sometimes (5–29%)
Posterior subcapsular cataract	Sometimes (5–29%)
Red green color blindness	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Areflexia of lower limbs	Often (30–79%)
Abnormality of the thumb	Sometimes (5–29%)
Absent ankle reflexes	Sometimes (5–29%)
Displaced index finger	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Limited elbow extension	Sometimes (5–29%)
Limited wrist movement	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle spasm	Often (30–79%)
Spastic paraparesis	Often (30–79%)
Extrapyramidal muscular rigidity	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Not recorded

Laboratory abnormality

Trait	How often it is seen
3-Methylglutaconic aciduria	Always
3-Methylglutaric aciduria	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Pain	Often (30–79%)

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 OPA3 and how often each is seen. Find out more at hpo.jax.org.

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