Traits

Traits linked to PRICKLE1

prickle planar cell polarity protein 1

The Human Phenotype Ontology links 16 traits to PRICKLE1, 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
EEG with polyspike wave complexes	Very often (80–99%)
Jerking	Very often (80–99%)
Limb ataxia	Very often (80–99%)
Morning myoclonic jerks	Very often (80–99%)
Ataxia	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Intention tremor	Often (30–79%)
Dementia	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Babinski sign	Not recorded
Generalized myoclonic seizure	Not recorded
Lack of coordination of movement	Not recorded
Sensory axonal neuropathy	Not recorded
Sudden loss of muscle tone	Not recorded
Tremor	Not recorded

Abnormality of the integument

Trait	How often it is seen
Photosensitive skin	Sometimes (5–29%)

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 PRICKLE1 and how often each is seen. Find out more at hpo.jax.org.

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