Traits

Traits linked to CPAP

centrosome assembly and centriole elongation protein

The Human Phenotype Ontology links 59 traits to CPAP, 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
Cleft nasal tip	Always
High forehead	Always
Receding chin	Always
Underdeveloped tissue around nostril	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%)
Sloping forehead	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%)
Sparse scalp hair	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Global developmental delay	Always
IQ between 34 and 49	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%)
Absent speech development	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Increased reflexes	Often (30–79%)
Underdeveloped frontal lobe	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Intellectual disability, mild	Sometimes (5–29%)
Small cerebral cortex	Not recorded

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%)
11 pairs of ribs	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Always
Prenatal growth deficiency	Always
Severe short stature	Always
Growth delay	Very often (80–99%)
Short stature	Very often (80–99%)
Wasting syndrome	Very often (80–99%)
Severe faltering weight	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always
Small ears	Always
Abnormal earlobe	Often (30–79%)
Absent earlobe	Often (30–79%)

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%)
Steep acetabular roof	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Wide-set eyes	Always
Glaucoma	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 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 CPAP and how often each is seen. Find out more at hpo.jax.org.

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