Traits

Traits linked to ARG1

arginase 1

The Human Phenotype Ontology links 28 traits to ARG1, 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
Degeneration of cerebellum	Always
Abnormal speech pattern	Very often (80–99%)
Behavioral abnormality	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Paralysis or weakness of one side of body	Often (30–79%)
Intellectual disability	Not recorded
Irritability	Not recorded
More active than typical	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Episodic vomiting	Always
Micronodular cirrhosis	Always
Portal fibrosis	Always
Slowed or blocked flow of bile from liver	Always
Anorexia	Not recorded
Vomiting	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Frequent falls	Always
Spastic walk	Always
Progressive spastic quadriplegia	Often (30–79%)
Spastic paraparesis	Not recorded

Laboratory abnormality

Trait	How often it is seen
High blood ammonia levels	Always
High blood arginine levels	Always
Diaminoaciduria	Very often (80–99%)
High urine orotic acid levels	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Reduced erythrocyte arginase activity	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay as children	Not recorded

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 ARG1 and how often each is seen. Find out more at hpo.jax.org.

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