Traits

Traits linked to NIT1

nitrilase 1

The Human Phenotype Ontology links 25 traits to NIT1, 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
Basal ganglia cysts	Always
Cognitive impairment	Always
Coma	Always
Generalized-onset seizure	Always
Intellectual disability, mild	Always
Paralysis of all four limbs	Always
Schizophrenia	Always
Weakness of one side of body	Always
Difficulty articulating speech	Very often (80–99%)
Slow movements	Very often (80–99%)
Abnormal gait	Often (30–79%)
Chorea	Often (30–79%)
Dystonia	Often (30–79%)
Tremor	Often (30–79%)
Depression	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Dilation of Virchow-Robin spaces	Always
Lacunar stroke	Always
Fainting spell	Very often (80–99%)
Ischemic stroke	Often (30–79%)
Stroke	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Increased urinary sulfite level	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 NIT1 and how often each is seen. Find out more at hpo.jax.org.

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