Traits

Traits linked to PPP2CA

protein phosphatase 2 catalytic subunit alpha

The Human Phenotype Ontology links 37 traits to PPP2CA, 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
Autism spectrum disorder	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Grand mal seizures	Often (30–79%)
Attention deficit	Sometimes (5–29%)
Bilateral tonic-clonic seizure with focal onset	Sometimes (5–29%)
Brief seizures with staring spells	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Small brainstem	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Delayed ability to walk	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Asymmetry of the posterior head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Broad nasal tip	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Fullness around the eyes	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Sometimes (5–29%)
Enlarged cornea	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Visual impairment	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Inguinal hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Muscular ventricular septal defect	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Single transverse palmar crease	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	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 PPP2CA and how often each is seen. Find out more at hpo.jax.org.

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