Trăsături

Trăsături asociate cu TCTN2

tectonic family member 2

Human Phenotype Ontology asociază 98 trăsături cu TCTN2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

TCTN2

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Encephalocele	Întotdeauna
Abnormally small head	Foarte des (80–99%)
Brain tissue sticks out through back of skull	Des (30–79%)
Cleft palate	Des (30–79%)
Decreased width of the skull	Des (30–79%)
Flat nose	Des (30–79%)
Full cheeks	Des (30–79%)
Little lower jaw	Des (30–79%)
Long face	Des (30–79%)
Sloping forehead	Des (30–79%)
Aplasia/Hypoplasia of the tongue	Uneori (5–29%)
Broad forehead	Uneori (5–29%)
Cleft of the mouth	Uneori (5–29%)
Cleft upper lip	Uneori (5–29%)
Dandy-Walker malformation	Uneori (5–29%)
Grooved tongue	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Short neck	Uneori (5–29%)
Short nose	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Întotdeauna
Ataxia	Întotdeauna
Fewer and broader ridges in brain	Întotdeauna
Global developmental delay	Întotdeauna
Increased reflexes	Întotdeauna
More grooves in brain	Întotdeauna
Small cerebellum	Întotdeauna
Cerebellar vermis hypoplasia	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Lobar holoprosencephaly	Des (30–79%)
Abnormality of neuronal migration	Uneori (5–29%)
Anencephaly	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Tremor	Uneori (5–29%)
Absent speech development	Neînregistrat
Lack of coordination of movement	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Farsightedness	Întotdeauna
Involuntary, rapid, rhythmic eye movements	Întotdeauna
Oculomotor apraxia	Foarte des (80–99%)
Abnormal chorioretinal morphology	Des (30–79%)
Abnormally small eyeball	Des (30–79%)
Absent/small iris	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Hardening of skin and connective tissue	Des (30–79%)
Optic atrophy	Des (30–79%)
Wide-set eyes	Des (30–79%)
Absence of eyeballs	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Multicystic kidney dysplasia	Foarte des (80–99%)
Ambiguous external genitalia	Des (30–79%)
Polycystic kidney dysplasia	Des (30–79%)
Undescended testes	Des (30–79%)
Double ureter	Uneori (5–29%)
Enlarged kidney	Uneori (5–29%)
Hyperechogenic kidneys	Uneori (5–29%)
Male pseudohermaphroditism	Uneori (5–29%)
True hermaphroditism	Uneori (5–29%)
Urethral atresia	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Extra little finger	Întotdeauna
Extra toe attached near the little toe	Întotdeauna
More than five fingers or toes on hands or feet	Întotdeauna
Talipes	Des (30–79%)
Bowing of the long bones	Uneori (5–29%)
Club feet	Uneori (5–29%)
Duplication of bones of the toes	Uneori (5–29%)
Extra finger	Uneori (5–29%)
Extra thumb	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Excessive buildup of connective tissue and scarring of liver at birth	Foarte des (80–99%)
Abdominal bloating	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Cystic liver disease	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Pancreatic cysts	Uneori (5–29%)
Pancreatic fibrosis	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
Absent spleen	Uneori (5–29%)
Accessory spleen	Uneori (5–29%)
All organs on wrong side of body	Uneori (5–29%)
Fluid around heart	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Involuntary muscle stiffness, contraction, or spasm	Întotdeauna
Low muscle tone	Întotdeauna
Abnormal vertebral body morphology	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

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%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Des (30–79%)
Anhydramnios	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Low-set ears	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormality of the hypothalamus-pituitary axis	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 TCTN2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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