Traits

Traits linked to PCDH12

protocadherin 12

The Human Phenotype Ontology links 17 traits to PCDH12, 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
Dystonia	Always
Epilepsy	Always
Focal clonic seizure	Always
Global developmental delay	Always
Hypsarrhythmia	Often (30–79%)
Infantile spasms	Often (30–79%)
Tonic seizure	Often (30–79%)
Generalized myoclonic seizure	Not recorded
Increased reflexes	Not recorded
IQ less than 20	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Progressively abnormally small cranium	Always
Small head present at birth	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always
Spastic tetraplegia	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Visual impairment	Always

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 PCDH12 and how often each is seen. Find out more at hpo.jax.org.

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