Traits

Traits linked to CENPE

centromere protein E

The Human Phenotype Ontology links 56 traits to CENPE, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Sloping forehead	Always
Small head present at birth	Always
Beaked nose	Very often (80–99%)
Deformity of the skull	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Narrow face	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Abnormal tooth enamel	Often (30–79%)
Decreased number of teeth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Prominent nose	Often (30–79%)
Round face	Often (30–79%)
Sparse scalp hair	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Cognitive impairment	Very often (80–99%)
Gray matter heterotopia	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Mild global developmental delay	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Increased reflexes	Often (30–79%)
Partial agenesis of the corpus callosum	Often (30–79%)
Simplified gyral pattern	Often (30–79%)
Small cerebellum	Often (30–79%)
Tonic seizure	Often (30–79%)
Underdeveloped frontal lobe	Often (30–79%)
Ventriculomegaly	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Very often (80–99%)
Abnormal cortical bone morphology	Often (30–79%)
Abnormal formation of the hip	Often (30–79%)
Cone-shaped end part of bone	Often (30–79%)
Double-Jointed	Often (30–79%)
Scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Short foot	Always
Small hand	Always
Curvature of little finger	Very often (80–99%)
Gap between 1st and 2nd toes	Very often (80–99%)
Increased bone density in wide portion of long bone	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Short stature	Always
Small for gestational age	Always
Growth delay	Very often (80–99%)
Wasting syndrome	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Abnormal earlobe	Often (30–79%)
Absent earlobe	Often (30–79%)
Large ears	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Glaucoma	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Restrictive cardiomyopathy	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Prematurely aged appearance	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Subglottic stenosis	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 CENPE and how often each is seen. Find out more at hpo.jax.org.

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