Traits

Traits linked to CEP120

centrosomal protein 120

The Human Phenotype Ontology links 114 traits to CEP120, 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
Bumpy tongue	Often (30–79%)
Dandy-Walker malformation	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Hamartoma of tongue	Often (30–79%)
Incomplete cleft of the upper lip	Often (30–79%)
Long face	Often (30–79%)
Relatively large head	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Cleft of the mouth	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Encephalocele	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Born with teeth	Not recorded
Cleft lip	Not recorded
Cleft tongue	Not recorded
Coarse facial features	Not recorded
Decreased size of facial bones	Not recorded
Midface retrusion	Not recorded
Prominent nose	Not recorded
Small retruded chin	Not recorded
Unicoronal synostosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Horizontal ribs	Always
Low muscle tone	Always
Narrow chest	Always
Short long bone	Always
Short ribs	Always
Abnormal shape of pelvic girdle bone	Very often (80–99%)
Abnormal skeletal development	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Shorter than typical length between neck and abdomen	Very often (80–99%)
Abnormal collarbone	Often (30–79%)
Abnormality of the sternum	Often (30–79%)
Cone-shaped end part of bone	Often (30–79%)
Hypoplastic pelvis	Often (30–79%)
Narrow greater sciatic notch	Often (30–79%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Abnormal vertebral morphology	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Bell-shaped thorax	Not recorded
Squared iliac bones	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Molar tooth sign on MRI	Always
Ataxia	Very often (80–99%)
Cerebellar vermis hypoplasia	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Abnormal gait	Often (30–79%)
Instability or lack of coordination of central trunk muscles	Often (30–79%)
Small cerebellum	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Preaxial polydactyly	Always
Smaller or shorter than typical limbs	Very often (80–99%)
Abnormality of the wide portion of a long bone	Often (30–79%)
Short calf bone	Often (30–79%)
Short fingers or toes	Often (30–79%)
Short foot	Often (30–79%)
Short shinbone	Often (30–79%)
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Extra little finger	Sometimes (5–29%)
Extra toe attached near the little toe	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Disproportionately short upper portion of limb	Not recorded
Flat acetabular roof	Not recorded
Postaxial polydactyly	Not recorded

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Very often (80–99%)
Oculomotor apraxia	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Wide-set eyes	Often (30–79%)
Abnormal retinal pigmentation	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Duane anomaly	Sometimes (5–29%)
Hole in the back of the eye	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Abnormally small eyeball	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Sometimes (5–29%)
Nephronophthisis	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Ambiguous external genitalia	Not recorded
Cystic kidney disease	Not recorded
Small kidneys	Not recorded
Undescended testes	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Omphalocele	Often (30–79%)
Abnormality of the liver	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Absent anus	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Very often (80–99%)
Apnea	Very often (80–99%)
Episodic tachypnea	Very often (80–99%)
Respiratory function loss	Often (30–79%)
Absent/small lungs	Sometimes (5–29%)
Poorly developed lungs	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
All organs on wrong side of body	Sometimes (5–29%)
Heart tip and four chambers point towards right side of body	Sometimes (5–29%)
Patent ductus arteriosus	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Large ears	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	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 CEP120 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test