Trăsături

Trăsături asociate cu TRIO

trio Rho guanine nucleotide exchange factor

Human Phenotype Ontology asociază 106 trăsături cu TRIO, 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
Abnormal dentition	Des (30–79%)
Abnormally small head	Des (30–79%)
Big calvaria	Des (30–79%)
Dental crowding	Des (30–79%)
Facial asymmetry	Des (30–79%)
Frontal bossing	Des (30–79%)
Full lips	Des (30–79%)
Fullness around the eyes	Des (30–79%)
High forehead	Des (30–79%)
Little lower jaw	Des (30–79%)
Monobrow	Des (30–79%)
Small head present at birth	Des (30–79%)
Bulbous nose	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Development of small head that was not present at birth	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Failure of development of more than six teeth	Uneori (5–29%)
Failure of eruption of tooth	Uneori (5–29%)
High palate	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Low frontal hairline	Uneori (5–29%)
Low hanging columella	Uneori (5–29%)
Midface retrusion	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Short chin	Uneori (5–29%)
Short nose	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Slanting of the opening between the eyelids	Uneori (5–29%)
Thick eyebrow	Uneori (5–29%)
Thin red part of the upper lip	Uneori (5–29%)
Underdeveloped tissue around nostril	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed ability to walk	Întotdeauna
Delayed speech and language development	Întotdeauna
Intellectual disability	Întotdeauna
Motor delay	Întotdeauna
Global developmental delay	Foarte des (80–99%)
Intellectual disability, mild	Foarte des (80–99%)
Poor speech	Foarte des (80–99%)
Aggressive behavior	Des (30–79%)
Attention deficit	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Increased reflexes	Des (30–79%)
Obsessive-compulsive trait	Des (30–79%)
Repetitive movements	Des (30–79%)
Absent speech development	Uneori (5–29%)
Delayed ability to sit	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Hyperacusis	Uneori (5–29%)
Inability to coordinate movements when walking	Uneori (5–29%)
Intellectual disability, borderline	Uneori (5–29%)
Obsessive compulsive behavior	Uneori (5–29%)
Pain insensitivity	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Self-mutilation	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Tremor	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Tapered finger	Des (30–79%)
Webbed 2nd and 3rd toes	Des (30–79%)
Abnormality of the hand	Uneori (5–29%)
Absent 1st long bone of hand	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Gap between 1st and 2nd toes	Uneori (5–29%)
Partial absence of thumb	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Short palm	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Unilateral radial aplasia	Uneori (5–29%)
Winged shoulder blade	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Chronic constipation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Poor swallowing	Des (30–79%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)
Poor suck	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Congenital drooping upper eyelid	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Complete atrioventricular canal defect	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Hunched back	Des (30–79%)
Scoliosis	Des (30–79%)
Funnel chest	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Large ears	Uneori (5–29%)
Overfolded ears	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness	Uneori (5–29%)
Frontal upsweep of hair	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Loss of bladder control	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	Întotdeauna

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High blood calcium levels	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 TRIO și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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