Traits

Traits linked to ACO2

aconitase 2

The Human Phenotype Ontology links 28 traits to ACO2, 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	Always
Intellectual disability, severe	Always
Involuntary writhing movements in fingers, hands, toes, and feet	Always
Severe global developmental delay	Always
Abnormal cerebral white matter morphology	Often (30–79%)
Absent reflexes	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Grand mal seizures	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Decreased reflex response	Sometimes (5–29%)
Demyelinating peripheral neuropathy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Always
Decreased clarity of vision	Always
Optic atrophy	Always
Optic disc pallor	Always
Paracentral scotoma	Always
Red green color blindness	Always
Visual impairment	Always
Cross-eyed	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Progressively abnormally small cranium	Not recorded

Growth abnormality

Trait	How often it is seen
Decreased body weight	Very often (80–99%)
Faltering weight	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	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 ACO2 and how often each is seen. Find out more at hpo.jax.org.

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