Traits

Traits linked to MOCS2

molybdenum cofactor synthesis 2

The Human Phenotype Ontology links 39 traits to MOCS2, 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
Diffuse cerebral atrophy	Always
Global developmental delay	Always
Grand mal seizures	Always
Irritability	Always
Thin corpus callosum	Always
Axonal loss	Not recorded
Degeneration of cerebrum	Not recorded
Epilepsy	Not recorded
Gliosis	Not recorded
Myoclonic spasms	Not recorded
Peripheral demyelination	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded
Ventriculomegaly	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Big calvaria	Not recorded
Frontal bossing	Not recorded
Full cheeks	Not recorded
Full lips	Not recorded
Long face	Not recorded
Long philtrum	Not recorded
Short nose	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased urinary urate	Always
Increased urinary sulfite level	Always
Low blood uric acid levels	Always
Increased urinary hypoxanthine level	Not recorded
Increased urinary taurine	Not recorded
Molybdenum cofactor deficiency	Not recorded
Xanthinuria	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Completely dislocated lens	Not recorded
Ectopia lentis	Not recorded
Wide-set eyes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Opisthotonus	Always
Spastic tetraplegia	Always
Spasticity and rigidity of muscles	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Xanthine nephrolithiasis	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	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 MOCS2 and how often each is seen. Find out more at hpo.jax.org.

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