Traits

Traits linked to CEP63

centrosomal protein 63

The Human Phenotype Ontology links 28 traits to CEP63, 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
Small head present at birth	Always
Abnormally small head	Very often (80–99%)
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%)
Abnormal tooth enamel	Often (30–79%)
Decreased number of teeth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Sparse scalp hair	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Very often (80–99%)
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 the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Intellectual disability	Always
Cognitive impairment	Very often (80–99%)
Mild global developmental delay	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Prenatal growth deficiency	Very often (80–99%)
Wasting syndrome	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Gap between 1st and 2nd toes	Very often (80–99%)

Abnormality of the ear

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

Abnormality of the eye

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

Abnormality of the integument

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

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 CEP63 and how often each is seen. Find out more at hpo.jax.org.

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