Traits

Traits linked to SUOX

sulfite oxidase

The Human Phenotype Ontology links 34 traits to SUOX, 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
Absent speech development	Always
Agitation	Always
Degeneration of cerebrum	Always
Disorder of involuntary muscle movements	Always
Global developmental delay	Always
Grand mal seizures	Always
Hyperintensity of cerebral white matter on MRI	Always
Intellectual disability, severe	Always
Multifocal epileptiform discharges	Always
Small cerebellum	Always
Ataxia	Not recorded
Choreoathetosis	Not recorded
Generalized dystonia	Not recorded
Paralysis on one side of body	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Metabolic acidosis	Always
Sulfite oxidase deficiency	Always
Sulfocysteinuria	Always
Decreased urinary sulfate	Not recorded
Increased urinary sulfite level	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Decreased muscle tone in infant	Not recorded
Generalized decreased muscle tone	Not recorded
Spasticity and rigidity of muscles	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Narrow forehead	Always
Delayed eruption of teeth	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always
Deeply set eye	Always
Ectopia lentis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Episodic vomiting	Always

Abnormality of the ear

Trait	How often it is seen
Large ears	Always

Abnormality of the immune system

Trait	How often it is seen
Eczema	Not recorded

Abnormality of the integument

Trait	How often it is seen
Fine hair	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 SUOX and how often each is seen. Find out more at hpo.jax.org.

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