Traits

Traits linked to SUCLA2

succinate-CoA ligase ADP-forming subunit beta

The Human Phenotype Ontology links 56 traits to SUCLA2, 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
Dystonia	Always
Generalized-onset seizure	Always
Hyperactive movements	Always
Motor delay	Always
Severe global developmental delay	Always
Ataxia	Very often (80–99%)
Behavioral abnormality	Very often (80–99%)
Decreased nerve conduction velocity	Very often (80–99%)
Decreased reflex response	Very often (80–99%)
Delayed motor skills	Very often (80–99%)
Epilepsy	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Ventriculomegaly	Very often (80–99%)
Generalized brain degeneration	Often (30–79%)
Irritability	Often (30–79%)
Infantile spasms	Sometimes (5–29%)
Abnormal basal ganglia morphology	Not recorded
Degeneration of cerebrum	Not recorded
Inability to walk	Not recorded
Involuntary writhing movements in fingers, hands, toes, and feet	Not recorded
Loss of ability to walk in early childhood	Not recorded
Peripheral neuropathy	Not recorded
Progressive brain disease	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased CSF lactate	Always
Methylmalonic acidemia	Always
Methylmalonic aciduria	Always
Abnormal urinary amino-acid findings	Very often (80–99%)
Elevated blood creatine phosphokinase	Very often (80–99%)
Higher than normal levels of lactate in blood	Very often (80–99%)
Increased lactate in body	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormal electroretinogram	Very often (80–99%)
Abnormality of visual evoked potentials	Very often (80–99%)
Drooping upper eyelid	Very often (80–99%)
Visual impairment	Very often (80–99%)
Cross-eyed	Not recorded
Eye muscle paralysis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Muscle degeneration	Always
Abnormal deposits of calcium in the brain	Very often (80–99%)
Decreased lung function due to weak breathing muscles	Not recorded
Involuntary muscle stiffness, contraction, or spasm	Not recorded

Growth abnormality

Trait	How often it is seen
Small for gestational age	Always
Short stature	Very often (80–99%)
Wasting syndrome	Very often (80–99%)
Faltering weight	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Facial diplegia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Feeding difficulties in infancy	Not recorded

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	Very often (80–99%)
Excessive sweating	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial respiratory chain	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Microcytic anemia	Always

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 SUCLA2 and how often each is seen. Find out more at hpo.jax.org.

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