Traits

Traits linked to PUS3

pseudouridine synthase 3

The Human Phenotype Ontology links 45 traits to PUS3, 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
Global developmental delay	Always
Epilepsy	Very often (80–99%)
Abnormal gait	Often (30–79%)
Bilateral tonic-clonic seizure with focal onset	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
IQ less than 20	Often (30–79%)
Multifocal cerebral white matter abnormalities	Often (30–79%)
Poor social interactions	Often (30–79%)
Poor speech	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Abnormality of balance	Sometimes (5–29%)
Absent speech development	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Dysplastic corpus callosum	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Multifocal hyperintensity of cerebral white matter on MRI	Sometimes (5–29%)
Pseudobulbar affect	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Visual hallucinations	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Always
Cross-eyed	Always
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Chronic kidney disease	Often (30–79%)
Decreased glomerular filtration rate	Often (30–79%)
Nephrotic syndrome	Sometimes (5–29%)
Tubulointerstitial nephritis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Very often (80–99%)
Abnormally small head	Often (30–79%)
Progressively abnormally small cranium	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Sometimes (5–29%)
Blue nevus	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Generalized decreased muscle tone	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Knock knees	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Often (30–79%)

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 PUS3 and how often each is seen. Find out more at hpo.jax.org.

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