Traits

Traits linked to PPP1CB

protein phosphatase 1 catalytic subunit beta

The Human Phenotype Ontology links 97 traits to PPP1CB, by body system: features seen in people with one of the gene's rare conditions.

PPP1CB

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Always
Deep philtrum	Always
Deformity of the skull	Always
High forehead	Always
Limited hair on end of eyebrow	Always
Narrow forehead	Always
Low hairline at back of neck	Very often (80–99%)
Short nose	Very often (80–99%)
Sparse scalp hair	Very often (80–99%)
Webbed neck	Very often (80–99%)
Dandy-Walker malformation	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Eye folds	Often (30–79%)
High palate	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Prominent forehead	Often (30–79%)
Relatively large head	Often (30–79%)
Short neck	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Abnormality of the palate	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Broad neck	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
Dental cavities	Sometimes (5–29%)
Facial hemangioma	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Full lower lip	Sometimes (5–29%)
High frontal hairline	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Narrowing of the tear duct	Sometimes (5–29%)
Pit in front of the ear	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Triangular mouth	Sometimes (5–29%)
Underdeveloped tissue around nostril	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)
Widely spaced teeth	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Always
Complete right bundle branch block	Often (30–79%)
Enlarged and thickened heart muscle	Often (30–79%)
Narrowing of pulmonic valve	Often (30–79%)
Patent foramen ovale	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Narrowing of peripheral lung artery	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Underdeveloped aortic arch	Sometimes (5–29%)
Patent ductus arteriosus	Not recorded

Abnormality of the integument

Trait	How often it is seen
Coarse hair	Always
Sparse hair	Always
Slow-growing hair	Often (30–79%)
Abnormal fingernails	Sometimes (5–29%)
Birthmark	Sometimes (5–29%)
Curly hair	Sometimes (5–29%)
Dermal translucency	Sometimes (5–29%)
Freckling	Sometimes (5–29%)
Thin skin	Sometimes (5–29%)
Underdeveloped toenails	Sometimes (5–29%)
Loose anagen hair	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Pigeon chest	Always
Scoliosis	Always
Delayed bone maturation	Very often (80–99%)
Double-Jointed	Often (30–79%)
Funnel chest	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone	Often (30–79%)
Abnormal intervertebral disk morphology	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Large ears	Often (30–79%)
Low-set ears	Often (30–79%)
Hearing impairment	Sometimes (5–29%)
Overfolded ears	Sometimes (5–29%)
Thickened helices	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Anxiety	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Chiari type I malformation	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Chronic constipation	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the elbow	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Faltering weight	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	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 PPP1CB and how often each is seen. Find out more at hpo.jax.org.

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