Traits

Traits linked to MOCS3

molybdenum cofactor synthesis 3

The Human Phenotype Ontology links 34 traits to MOCS3, 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
Autism	Always
Bilateral tonic-clonic seizure with generalized onset	Always
Delayed ability to roll over	Always
Delayed speech and language development	Always
Encephalomalacia	Always
Global developmental delay	Always
Increased reflexes	Always
Instability or lack of coordination of central trunk muscles	Always
Intellectual disability	Always
Persistent head lag	Always
Phonic tics	Always
Severe global developmental delay	Always

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Bad bite	Always
Development of small head that was not present at birth	Always
Drooling	Always
Long philtrum	Always

Abnormality of limbs

Trait	How often it is seen
Inward turned thumb	Always
Long foot	Always
Long slender fingers	Always
Long toe	Always
Outward turned elbows	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Hyperextensible hand joints	Always
Low muscle tone	Always
Spasticity and rigidity of muscles	Always

Laboratory abnormality

Trait	How often it is seen
Increased urinary hypoxanthine level	Always
Increased urinary thiosulfate	Always
Sulfocysteinuria	Always
Xanthinuria	Always

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Always

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	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 MOCS3 and how often each is seen. Find out more at hpo.jax.org.

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