Traits

Traits linked to UROC1

urocanate hydratase 1

The Human Phenotype Ontology links 16 traits to UROC1, 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
Action tremor	Always
Ataxia	Always
Inability to coordinate movements when walking	Always
Instability or lack of coordination of central trunk muscles	Always
IQ between 34 and 49	Always
Lack of coordination of movement	Always
Wide based walk	Always
Difficulty articulating speech	Very often (80–99%)
Hyperactive deep tendon reflexes	Very often (80–99%)
Aggressive behavior	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Gaze-evoked horizontal nystagmus	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
High urine urocanic acid levels	Always
Abnormal circulating histidine concentration	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Short stature	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 UROC1 and how often each is seen. Find out more at hpo.jax.org.

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