Traits

Traits linked to OGDH

oxoglutarate dehydrogenase

The Human Phenotype Ontology links 26 traits to OGDH, 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
Ataxia	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Abnormality of movement	Often (30–79%)
Delayed motor skills	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Falls	Often (30–79%)
Grand mal seizures	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Motor delay	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Unsteady walk	Often (30–79%)
Ventriculomegaly	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Muscle degeneration	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Diffuse skeletal muscle wasting	Often (30–79%)
Rigidity	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Abnormal urine alpha-ketoglutarate concentration	Very often (80–99%)
Abnormality of Krebs cycle metabolism	Very often (80–99%)
Congenital lactic acidosis	Not recorded
Metabolic acidosis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the salivary glands	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	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 OGDH and how often each is seen. Find out more at hpo.jax.org.

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