Trăsături

Trăsături asociate cu PCNT

pericentrin

Human Phenotype Ontology asociază 101 trăsături cu PCNT, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Foarte des (80–99%)
Beaked nose	Foarte des (80–99%)
Decreased number of teeth	Foarte des (80–99%)
Deformity of the skull	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Narrow face	Foarte des (80–99%)
Prominent nose	Foarte des (80–99%)
Abnormal tooth enamel	Des (30–79%)
Decreased size of tooth	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Full cheeks	Des (30–79%)
Receding chin	Des (30–79%)
Sparse or absent eyebrows	Des (30–79%)
Sparse scalp hair	Des (30–79%)
Underdeveloped tissue around nostril	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Big sella turcica	Uneori (5–29%)
Narrow eyelid opening	Uneori (5–29%)
Prominent nasal bridge	Neînregistrat
Sloping forehead	Neînregistrat
Thin dental enamel	Neînregistrat
Upward slanting of the opening between the eyelids	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Coxa vara	Foarte des (80–99%)
Curvature of little finger	Foarte des (80–99%)
Gap between 1st and 2nd toes	Foarte des (80–99%)
Short fingers or toes	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Limited elbow extension	Uneori (5–29%)
Short middle bone of finger	Uneori (5–29%)
Bowed shankbone	Neînregistrat
Bowing of outer large bone of the forearm	Neînregistrat
Curving of inner forearm bone	Neînregistrat
Flared wide portion of long bone	Neînregistrat
Metacarpal pseudoepiphysis	Neînregistrat
Short outermost finger bone	Neînregistrat
Shortened 1st long bone of hand	Neînregistrat
Slipped end part of innermost thighbone	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal shape of end part of bone	Foarte des (80–99%)
Delayed bone maturation	Foarte des (80–99%)
Hypoplastic iliac wing	Foarte des (80–99%)
Narrow pelvis bone	Foarte des (80–99%)
Abnormal formation of the hip	Des (30–79%)
Cone-shaped end part of bone	Des (30–79%)
Double-Jointed	Des (30–79%)
Scoliosis	Des (30–79%)
Distal symphalangism	Uneori (5–29%)
Increased bone density in end part of bone	Uneori (5–29%)
Long collarbone	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Small shoulder blade	Uneori (5–29%)
Straight collarbone	Uneori (5–29%)
Thin collarbone	Uneori (5–29%)
Slender long bone	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Cognitive impairment	Foarte des (80–99%)
High pitched voice	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Mild global developmental delay	Foarte des (80–99%)
Attention deficit	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the cerebral blood vessels	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aneurysm	Uneori (5–29%)
Narrowing of an artery	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Stroke	Uneori (5–29%)
Brain aneurysm	Neînregistrat
Moyamoya phenomenon	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Fine hair	Foarte des (80–99%)
Prematurely aged appearance	Foarte des (80–99%)
Dry skin	Des (30–79%)
Multiple birthmarks	Des (30–79%)
Patchy loss of skin color	Des (30–79%)
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines	Neînregistrat
Birthmark	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Absent/small ear lobes	Foarte des (80–99%)
Abnormal earlobe	Des (30–79%)
Absent earlobe	Des (30–79%)
Low-set ears	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Small ears	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Disproportionate short stature	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Wasting syndrome	Foarte des (80–99%)
Truncal obesity	Des (30–79%)
Growth delay as children	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Glaucoma	Des (30–79%)
Farsightedness	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal female external genitalia	Des (30–79%)
Hypospadias	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Narrowing of windpipe	Uneori (5–29%)
Softening of voice box tissue	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Foarte des (80–99%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Noninsulin-dependent diabetes	Neînregistrat

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu PCNT și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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