Traits

Traits linked to GLS

glutaminase

The Human Phenotype Ontology links 27 traits to GLS, 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
Agitation	Always
Delayed CNS myelination	Always
Delayed motor skills	Always
Delayed speech and language development	Always
EEG with burst suppression	Always
Epilepsy	Always
Epileptic encephalopathy	Always
Global developmental delay	Always
Poor eye contact	Always
Progressive cerebellar ataxia	Always
Self-injurious behavior	Always
CNS demyelination	Often (30–79%)
Degeneration of cerebellum	Often (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Often (30–79%)
Gliosis	Often (30–79%)
Simplified gyral pattern	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Firm lump under the skin	Always
Hyperkeratosis	Always
Parakeratosis	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Kyphoscoliosis	Always
Low muscle tone	Always
Low muscle tone in trunk	Always

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Always
Respiratory failure	Often (30–79%)
Cheyne-Stokes respiration	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Always

Laboratory abnormality

Trait	How often it is seen
High plasma glutamine	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 GLS and how often each is seen. Find out more at hpo.jax.org.

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