Traits

Traits linked to PRDM13

PR/SET domain 13

The Human Phenotype Ontology links 45 traits to PRDM13, 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
Cerebellar vermis hypoplasia	Always
Difficulty performing quick and alternating movements	Always
Global developmental delay	Always
Intellectual disability	Always
Lack of coordination of movement	Always
Motor delay	Always
Wide based walk	Always
Cerebellar hemisphere hypoplasia	Often (30–79%)
Decreased reflex response	Often (30–79%)
Epilepsy	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Increased reflexes	Often (30–79%)
Small brainstem	Often (30–79%)
Small cerebellum	Often (30–79%)
Paroxysmal dystonia	Sometimes (5–29%)
Hypoplasia of the pons	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Low muscle tone in trunk	Always
Scoliosis	Always
Low muscle tone	Often (30–79%)
Spastic tetraplegia	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Hunched back	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Often (30–79%)
Low frontal hairline	Sometimes (5–29%)
Small retruded chin	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating follicle stimulating hormone concentration	Always
Decreased circulating luteinizing hormone level	Always
Delayed puberty	Always
Hypogonadotropic hypogonadism	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Secundum atrial septal defect	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Often (30–79%)
Acid reflux	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Always
Undescended testes	Always

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 PRDM13 and how often each is seen. Find out more at hpo.jax.org.

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