Traits

Traits linked to PPP2R1A

protein phosphatase 2 scaffold subunit Aalpha

The Human Phenotype Ontology links 49 traits to PPP2R1A, 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
Inability to coordinate movements when walking	Always
Intellectual disability	Always
Intellectual disability, severe	Always
Absent speech development	Very often (80–99%)
Epilepsy	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Delayed motor skills	Often (30–79%)
Delayed myelination	Often (30–79%)
Inability to walk	Often (30–79%)
Poor speech	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Ventriculomegaly	Often (30–79%)
More active than typical	Sometimes (5–29%)
Olivopontocerebellar hypoplasia	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Asymmetry of the posterior head	Often (30–79%)
Decreased facial muscle tone	Often (30–79%)
Facial asymmetry	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Open mouth	Often (30–79%)
Prominent metopic ridge	Often (30–79%)
Upper eyelid entropion	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Not recorded
Tented mouth	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Often (30–79%)
Visual impairment	Often (30–79%)
Wide-set eyes	Often (30–79%)
Abnormality of the eye	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Often (30–79%)
Low muscle tone	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad big toe	Often (30–79%)
Displaced little finger	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)
Postaxial polydactyly	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Sometimes (5–29%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Sometimes (5–29%)
Absent uterus	Sometimes (5–29%)
Absent vagina	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Underdeveloped aortic arch	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal hair whorl	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 PPP2R1A and how often each is seen. Find out more at hpo.jax.org.

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