Traits

Traits linked to GOT2

glutamic-oxaloacetic transaminase 2

The Human Phenotype Ontology links 18 traits to GOT2, 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
Delayed speech and language development	Always
Epilepsy	Always
Intellectual disability, severe	Always
Absent speech development	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Inability to walk	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Always
Spastic paraparesis	Often (30–79%)
Spastic tetraplegia	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Often (30–79%)
Short stature	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
High blood ammonia levels	Always
Higher than normal levels of lactate in blood	Always

Abnormality of head or neck

Trait	How often it is seen
Progressively abnormally small cranium	Always

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	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 GOT2 and how often each is seen. Find out more at hpo.jax.org.

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