Traits

Traits linked to PPP2R5C

protein phosphatase 2 regulatory subunit B'gamma

The Human Phenotype Ontology links 103 traits to PPP2R5C, by body system: features seen in people with one of the gene's rare conditions.

PPP2R5C

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of balance	Always
Cavum septum pellucidum	Always
Clumsiness	Always
Clumsy tandem walking	Always
Delayed CNS myelination	Always
High stepping	Always
Hippocampal sclerosis	Always
Inability to walk	Always
Incoordination	Always
Increased appetite	Always
Intention tremor	Always
More active than typical	Always
Postural tremor	Always
Reduced brain N-acetyl aspartate level by MRS	Always
Repetitive movements	Always
Tic disorder	Always
Tremor	Always
Delayed ability to sit	Very often (80–99%)
Delayed ability to walk	Very often (80–99%)
Interictal EEG abnormality	Very often (80–99%)
Mild global developmental delay	Very often (80–99%)
Delayed ability to stand	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Difficulty staying or falling asleep	Often (30–79%)
Focal impaired awareness seizure	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Moderate global developmental delay	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Severe global developmental delay	Often (30–79%)
Typical absence seizure	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Drowsiness	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Generalized-onset seizure	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Limited pointing	Sometimes (5–29%)
Myoclonic seizure	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Anxiety	Rarely (1–4%)
Decreased reflex response	Rarely (1–4%)
Difficulty sleeping	Rarely (1–4%)
Impulsivity	Rarely (1–4%)
Restlessness	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Enlarged cisterna magna	Always
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Corners of eye widely separated	Rarely (1–4%)
Deep bite	Rarely (1–4%)
Flat back of skull	Rarely (1–4%)
Little lower jaw	Rarely (1–4%)
Pointed chin	Rarely (1–4%)
Wider-than-typical soft spot of skull	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Horizontal nystagmus	Often (30–79%)
Cerebral visual impairment	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Inward turning cross eyed	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Drooping of both upper eyelids	Rarely (1–4%)
Farsightedness	Rarely (1–4%)
Notched pupil	Rarely (1–4%)
Vitreous haze	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Chronic constipation	Always
Diarrhea	Always
Feeding difficulties	Often (30–79%)
Prolonged yellowing of skin in newborn	Sometimes (5–29%)
Pyloric stenosis	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Fatty lump	Always
Low muscle tone	Always
Scoliosis	Always
Tired easily	Always
Decreased muscle tone in infant	Sometimes (5–29%)
Delayed bone maturation	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney stone	Always
Pyelonephritis	Always
Vesicoureteral reflux	Always

Abnormality of the integument

Trait	How often it is seen
Blotchy loss of skin color	Rarely (1–4%)
Mole	Rarely (1–4%)
Soft skin	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Elevated urine calcium levels	Always
High blood calcium levels	Always
Noninsulin-dependent diabetes	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Decreased knee jerk reflex	Always
Curvature of digit	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Strawberry mark	Always
Telangiectasia of the skin	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormally heavy bleeding during menstruation	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Placental abruption	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Eczema	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 PPP2R5C and how often each is seen. Find out more at hpo.jax.org.

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