Trăsături

Trăsături asociate cu ADAT3

adenosine deaminase tRNA specific 3

Human Phenotype Ontology asociază 76 trăsături cu ADAT3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

ADAT3

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Eye folds	Des (30–79%)
Prominent forehead	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Asymmetry of the posterior head	Uneori (5–29%)
Corners of eye widely separated	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Full lips	Uneori (5–29%)
High forehead	Uneori (5–29%)
High palate	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long face	Uneori (5–29%)
Monobrow	Uneori (5–29%)
Narrow nasal ridge	Uneori (5–29%)
Prominent nose	Uneori (5–29%)
Short neck	Uneori (5–29%)
Short nose	Uneori (5–29%)
Sloping forehead	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Abnormal dentition	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Întotdeauna
Abnormal shape of brain	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Global developmental delay	Des (30–79%)
Aggressive behavior	Uneori (5–29%)
Brain degeneration	Uneori (5–29%)
Delayed CNS myelination	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Diffuse demyelination of the cerebral white matter	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Abnormal gait	Rar (1–4%)
Agenesis of corpus callosum	Rar (1–4%)
Balance impairment	Rar (1–4%)
Peripheral neuropathy	Rar (1–4%)
Underdevelopment of part of brain called corpus callosum	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Club feet	Uneori (5–29%)
Rocker bottom foot	Uneori (5–29%)
Shortening of the achilles tendon	Uneori (5–29%)
Congenital finger flexion contractures	Rar (1–4%)
Joint contracture of the hand	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Low muscle tone	Des (30–79%)
Limitation of joint mobility	Uneori (5–29%)
Congenital diaphragmatic hernia	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Recurrent gastroenteritis	Uneori (5–29%)
Chronic constipation	Rar (1–4%)
Feeding difficulties	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Uneori (5–29%)
Large ears	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Recurrent middle ear infection	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Uneori (5–29%)
Medullary nephrocalcinosis	Uneori (5–29%)
Short penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased circulating insulin-like growth factor 1 concentration	Uneori (5–29%)
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Underactive thyroid	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Foarte des (80–99%)
Inward turning cross eyed	Foarte des (80–99%)
Wide-set eyes	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Short stature	Des (30–79%)
Prenatal growth deficiency	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%)
Patent ductus arteriosus	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Decreased ability to sweat	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 ADAT3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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