Trăsături

Trăsături asociate cu RTL1

retrotransposon Gag like 1

Human Phenotype Ontology asociază 168 trăsături cu RTL1, 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 facial shape	Foarte des (80–99%)
Abnormally large tongue	Des (30–79%)
Chin with horizontal crease	Des (30–79%)
Deep philtrum	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Hairy forehead	Des (30–79%)
Prominent forehead	Des (30–79%)
Receding chin	Des (30–79%)
Short neck	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Asymmetry of the posterior head	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Big lower jaw	Uneori (5–29%)
Broad forehead	Uneori (5–29%)
Chin with H-shaped crease	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Decreased facial expression	Uneori (5–29%)
Decreased size of maxilla	Uneori (5–29%)
Dense bone of skull base	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Drooling	Uneori (5–29%)
Exaggerated cupid's bow	Uneori (5–29%)
Extra bones within cranial sutures	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Full cheeks	Uneori (5–29%)
Full lips	Uneori (5–29%)
High palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long philtrum	Uneori (5–29%)
Narrow eyelid opening	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Narrow mouth	Uneori (5–29%)
Narrow opening between the eyelids	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Open mouth	Uneori (5–29%)
Prominent area between the eyebrows	Uneori (5–29%)
Redundant neck skin	Uneori (5–29%)
Relatively large head	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Tented mouth	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Wide nose	Uneori (5–29%)
Wider-than-typical soft spot of skull	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short foot	Foarte des (80–99%)
Small hand	Foarte des (80–99%)
Limb undergrowth	Des (30–79%)
Abnormality of the outermost finger bone	Uneori (5–29%)
Acromicria	Uneori (5–29%)
Bowed shankbone	Uneori (5–29%)
Broad outermost finger bone	Uneori (5–29%)
Coxa valga	Uneori (5–29%)
Curvature of digit	Uneori (5–29%)
Curvature of middle finger	Uneori (5–29%)
Flexion contracture of finger	Uneori (5–29%)
Front half of foot turns inward	Uneori (5–29%)
Interphalangeal joint contracture of finger	Uneori (5–29%)
Inward turned thumb	Uneori (5–29%)
Long toe	Uneori (5–29%)
Metaphyseal spurs	Uneori (5–29%)
Overlapping toe	Uneori (5–29%)
Prominent heel bone	Uneori (5–29%)
Short neck of thighbone	Uneori (5–29%)
Short shinbone	Uneori (5–29%)
Shortened 1st long bone of hand	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Small end part of innermost shankbone	Uneori (5–29%)
Thumb contracture	Uneori (5–29%)
Ulnar deviation of the wrist	Uneori (5–29%)
Upper limb undergrowth	Uneori (5–29%)
Wrist flexion contracture	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Coat hanger sign of ribs	Întotdeauna
Double-Jointed	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Small chest	Foarte des (80–99%)
Abnormality of the skeletal system	Des (30–79%)
Flexed joint that cannot be straightened	Des (30–79%)
Funnel chest	Des (30–79%)
Hypoplastic iliac wing	Des (30–79%)
Kyphoscoliosis	Des (30–79%)
Low muscle tone, in neonatal onset	Des (30–79%)
Abnormality of the costochondral junction	Uneori (5–29%)
Absent glenoid fossa	Uneori (5–29%)
Anterior rib cupping	Uneori (5–29%)
Decreased muscle tone in infant	Uneori (5–29%)
Long collarbone	Uneori (5–29%)
Missing part of vertebrae	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Permanent flexion of the finger or toe	Uneori (5–29%)
Prominent sternum	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Short ribs	Uneori (5–29%)
Small shoulder blade	Uneori (5–29%)
Small wings of the pelvic girdle	Uneori (5–29%)
Speckled calcifications in end part of bone	Uneori (5–29%)
Wavy ribs	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability, mild	Foarte des (80–99%)
Motor delay	Foarte des (80–99%)
Intellectual disability	Des (30–79%)
Autism spectrum disorder	Uneori (5–29%)
Delayed motor skills	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Fewer or absent grooves in brain	Uneori (5–29%)
Moderate global developmental delay	Uneori (5–29%)
Poor eye contact	Uneori (5–29%)
Poor fine motor coordination	Uneori (5–29%)
Poor social interactions	Uneori (5–29%)
Severe global developmental delay	Uneori (5–29%)
Spinal dysraphism	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Foarte des (80–99%)
Feeding difficulties in infancy	Foarte des (80–99%)
Gap between large left and right abdominal muscles	Des (30–79%)
Inguinal hernia	Des (30–79%)
Poor suck	Des (30–79%)
Umbilical hernia	Des (30–79%)
Belly sticks out	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)
Hepatoblastoma	Uneori (5–29%)
Hernia of the abdominal wall	Uneori (5–29%)
Omphalocele	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal aortic arch morphology	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Avascular peripheral retina	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Enlarged liver and spleen	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Narrowing of lung artery	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Birth weight > 90th percentile	Des (30–79%)
Growth delay	Des (30–79%)
Obesity	Des (30–79%)
Short stature	Des (30–79%)
Small for gestational age	Des (30–79%)
Truncal obesity	Des (30–79%)
General overgrowth	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the genitourinary system	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Underdevelopment of external reproductive organs	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Respiratory failure	Des (30–79%)
Poorly developed lungs	Uneori (5–29%)
Softening of voice box tissue	Uneori (5–29%)
Stiff lung or chest wall causing decreased lung volume	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Foarte des (80–99%)
Large placenta	Foarte des (80–99%)
Premature birth	Des (30–79%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Inverted nipples	Uneori (5–29%)
Small nipples	Uneori (5–29%)
Wide-spaced nipples	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Small ears	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)
Recurrent middle ear infection	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Deeply set eye	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Hanging skin	Uneori (5–29%)
Small nail	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated serum cholesterol	Uneori (5–29%)
Maturity-onset diabetes of the young	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Foarte des (80–99%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse cry	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 RTL1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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