Traits

Traits linked to GLUL

glutamate-ammonia ligase

The Human Phenotype Ontology links 42 traits to GLUL, 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
Brain degeneration	Always
CNS hypomyelination	Always
Epilepsy	Always
Epileptic encephalopathy	Always
Generalized-onset seizure	Always
Myoclonic seizure	Always
Overactive lower leg reflex	Always
Profound global developmental delay	Always
Seizure affecting one half of brain	Always
Severe global developmental delay	Always
Underdevelopment of part of brain called corpus callosum	Always
Grand mal seizures	Often (30–79%)
Lateral ventricle dilatation	Often (30–79%)
Subependymal cysts	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Brief seizures with staring spells	Sometimes (5–29%)
Focal clonic seizure	Sometimes (5–29%)
Focal myoclonic seizure	Sometimes (5–29%)
Generalized myoclonic-atonic seizure	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)
Encephalopathy	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Decreased volume of lip	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Short nose	Often (30–79%)
Wide nasal bridge	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Low muscle tone	Always
Flexed joint that cannot be straightened	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Slow heartbeats	Always
Dilation of Virchow-Robin spaces	Often (30–79%)
Redness of skin or mucous membrane	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Decreased blood glutamine concentration	Always
Decreased CSF glutamine concentration	Always
High blood ammonia levels	Always

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Always
Neonatal respiratory distress	Always

Abnormality of limbs

Trait	How often it is seen
Smaller or shorter than typical limbs	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always

Abnormality of the immune system

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

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