Trăsături

Trăsături asociate cu CEP120

centrosomal protein 120

Human Phenotype Ontology asociază 114 trăsături cu CEP120, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

CEP120

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Bumpy tongue	Des (30–79%)
Dandy-Walker malformation	Des (30–79%)
Decreased width of the skull	Des (30–79%)
Hamartoma of tongue	Des (30–79%)
Incomplete cleft of the upper lip	Des (30–79%)
Long face	Des (30–79%)
Relatively large head	Des (30–79%)
Sparse eyebrow	Des (30–79%)
Cleft of the mouth	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Encephalocele	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Born with teeth	Neînregistrat
Cleft lip	Neînregistrat
Cleft tongue	Neînregistrat
Coarse facial features	Neînregistrat
Decreased size of facial bones	Neînregistrat
Midface retrusion	Neînregistrat
Prominent nose	Neînregistrat
Small retruded chin	Neînregistrat
Unicoronal synostosis	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Horizontal ribs	Întotdeauna
Low muscle tone	Întotdeauna
Narrow chest	Întotdeauna
Short long bone	Întotdeauna
Short ribs	Întotdeauna
Abnormal shape of pelvic girdle bone	Foarte des (80–99%)
Abnormal skeletal development	Foarte des (80–99%)
Abnormality of the ribs	Foarte des (80–99%)
Shorter than typical length between neck and abdomen	Foarte des (80–99%)
Abnormal collarbone	Des (30–79%)
Abnormality of the sternum	Des (30–79%)
Cone-shaped end part of bone	Des (30–79%)
Hypoplastic pelvis	Des (30–79%)
Narrow greater sciatic notch	Des (30–79%)
Abnormal vertebral body morphology	Uneori (5–29%)
Abnormal vertebral morphology	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Bell-shaped thorax	Neînregistrat
Squared iliac bones	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Molar tooth sign on MRI	Întotdeauna
Ataxia	Foarte des (80–99%)
Cerebellar vermis hypoplasia	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Instability or lack of coordination of central trunk muscles	Des (30–79%)
Small cerebellum	Des (30–79%)
Abnormality of neuronal migration	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
More grooves in brain	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Tremor	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Preaxial polydactyly	Întotdeauna
Smaller or shorter than typical limbs	Foarte des (80–99%)
Abnormality of the wide portion of a long bone	Des (30–79%)
Short calf bone	Des (30–79%)
Short fingers or toes	Des (30–79%)
Short foot	Des (30–79%)
Short shinbone	Des (30–79%)
Duplication of bones of the toes	Uneori (5–29%)
Extra finger	Uneori (5–29%)
Extra little finger	Uneori (5–29%)
Extra toe attached near the little toe	Uneori (5–29%)
Fused toes	Uneori (5–29%)
Disproportionately short upper portion of limb	Neînregistrat
Flat acetabular roof	Neînregistrat
Postaxial polydactyly	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Breakdown of light-sensitive cells in back of eye	Foarte des (80–99%)
Oculomotor apraxia	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Wide-set eyes	Des (30–79%)
Abnormal retinal pigmentation	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Duane anomaly	Uneori (5–29%)
Hole in the back of the eye	Uneori (5–29%)
Visual loss	Uneori (5–29%)
Abnormally small eyeball	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Kidney damage	Uneori (5–29%)
Nephronophthisis	Uneori (5–29%)
Renal failure	Uneori (5–29%)
Ambiguous external genitalia	Neînregistrat
Cystic kidney disease	Neînregistrat
Small kidneys	Neînregistrat
Undescended testes	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Omphalocele	Des (30–79%)
Abnormality of the liver	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Absent anus	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal pattern of respiration	Foarte des (80–99%)
Apnea	Foarte des (80–99%)
Episodic tachypnea	Foarte des (80–99%)
Respiratory function loss	Des (30–79%)
Absent/small lungs	Uneori (5–29%)
Poorly developed lungs	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
All organs on wrong side of body	Uneori (5–29%)
Heart tip and four chambers point towards right side of body	Uneori (5–29%)
Patent ductus arteriosus	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Large ears	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormality of the hypothalamus-pituitary axis	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Uneori (5–29%)

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 CEP120 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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