Traits

Traits linked to PCNT

pericentrin

The Human Phenotype Ontology links 101 traits to PCNT, 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	Very often (80–99%)
Beaked nose	Very often (80–99%)
Decreased number of teeth	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%)
Prominent nose	Very often (80–99%)
Abnormal tooth enamel	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Full cheeks	Often (30–79%)
Receding chin	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Underdeveloped tissue around nostril	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Big sella turcica	Sometimes (5–29%)
Narrow eyelid opening	Sometimes (5–29%)
Prominent nasal bridge	Not recorded
Sloping forehead	Not recorded
Thin dental enamel	Not recorded
Upward slanting of the opening between the eyelids	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Very often (80–99%)
Coxa vara	Very often (80–99%)
Curvature of little finger	Very often (80–99%)
Gap between 1st and 2nd toes	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Limited elbow extension	Sometimes (5–29%)
Short middle bone of finger	Sometimes (5–29%)
Bowed shankbone	Not recorded
Bowing of outer large bone of the forearm	Not recorded
Curving of inner forearm bone	Not recorded
Flared wide portion of long bone	Not recorded
Metacarpal pseudoepiphysis	Not recorded
Short outermost finger bone	Not recorded
Shortened 1st long bone of hand	Not recorded
Slipped end part of innermost thighbone	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal shape of end part of bone	Very often (80–99%)
Delayed bone maturation	Very often (80–99%)
Hypoplastic iliac wing	Very often (80–99%)
Narrow pelvis bone	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	Often (30–79%)
Distal symphalangism	Sometimes (5–29%)
Increased bone density in end part of bone	Sometimes (5–29%)
Long collarbone	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)
Small shoulder blade	Sometimes (5–29%)
Straight collarbone	Sometimes (5–29%)
Thin collarbone	Sometimes (5–29%)
Slender long bone	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Cognitive impairment	Very often (80–99%)
High pitched voice	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Mild global developmental delay	Very often (80–99%)
Attention deficit	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cerebral blood vessels	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aneurysm	Sometimes (5–29%)
Narrowing of an artery	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Brain aneurysm	Not recorded
Moyamoya phenomenon	Not recorded

Abnormality of the integument

Trait	How often it is seen
Fine hair	Very often (80–99%)
Prematurely aged appearance	Very often (80–99%)
Dry skin	Often (30–79%)
Multiple birthmarks	Often (30–79%)
Patchy loss of skin color	Often (30–79%)
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines	Not recorded
Birthmark	Not recorded

Abnormality of the ear

Trait	How often it is seen
Absent/small ear lobes	Very often (80–99%)
Abnormal earlobe	Often (30–79%)
Absent earlobe	Often (30–79%)
Low-set ears	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Small ears	Not recorded

Growth abnormality

Trait	How often it is seen
Disproportionate short stature	Very often (80–99%)
Prenatal growth deficiency	Very often (80–99%)
Short stature	Very often (80–99%)
Wasting syndrome	Very often (80–99%)
Truncal obesity	Often (30–79%)
Growth delay as children	Not recorded

Abnormality of the eye

Trait	How often it is seen
Glaucoma	Often (30–79%)
Farsightedness	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal female external genitalia	Often (30–79%)
Hypospadias	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Narrowing of windpipe	Sometimes (5–29%)
Softening of voice box tissue	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Noninsulin-dependent diabetes	Not recorded

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

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