Traits

Traits linked to PRDM8

PR/SET domain 8

The Human Phenotype Ontology links 22 traits to PRDM8, 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
Jerking	Very often (80–99%)
Lafora bodies	Very often (80–99%)
Behavioral abnormality	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Increased reflexes	Often (30–79%)
Ataxia	Sometimes (5–29%)
Confusion	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Inability to speak	Sometimes (5–29%)
Mental deterioration	Sometimes (5–29%)
Paranoia	Rarely (1–4%)
Cognitive impairment	Not recorded
Dementia	Not recorded
Generalized myoclonic seizure	Not recorded
Hallucinations	Not recorded
Progressive cerebellar ataxia	Not recorded
Psychosis	Not recorded
Spastic ataxia	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic tetraparesis	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Spastic tetraplegia	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	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 PRDM8 and how often each is seen. Find out more at hpo.jax.org.

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