Tratti

Tratti collegati a RTL1

retrotransposon Gag like 1

La Human Phenotype Ontology collega 168 tratti a RTL1, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

Abnormality of head or neck

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

Abnormality of limbs

Tratto	Frequenza di osservazione
Short foot	Molto spesso (80–99%)
Small hand	Molto spesso (80–99%)
Limb undergrowth	Spesso (30–79%)
Abnormality of the outermost finger bone	A volte (5–29%)
Acromicria	A volte (5–29%)
Bowed shankbone	A volte (5–29%)
Broad outermost finger bone	A volte (5–29%)
Coxa valga	A volte (5–29%)
Curvature of digit	A volte (5–29%)
Curvature of middle finger	A volte (5–29%)
Flexion contracture of finger	A volte (5–29%)
Front half of foot turns inward	A volte (5–29%)
Interphalangeal joint contracture of finger	A volte (5–29%)
Inward turned thumb	A volte (5–29%)
Long toe	A volte (5–29%)
Metaphyseal spurs	A volte (5–29%)
Overlapping toe	A volte (5–29%)
Prominent heel bone	A volte (5–29%)
Short neck of thighbone	A volte (5–29%)
Short shinbone	A volte (5–29%)
Shortened 1st long bone of hand	A volte (5–29%)
Single transverse palmar crease	A volte (5–29%)
Small end part of innermost shankbone	A volte (5–29%)
Thumb contracture	A volte (5–29%)
Ulnar deviation of the wrist	A volte (5–29%)
Upper limb undergrowth	A volte (5–29%)
Wrist flexion contracture	A volte (5–29%)

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Coat hanger sign of ribs	Sempre
Double-Jointed	Molto spesso (80–99%)
Low muscle tone	Molto spesso (80–99%)
Small chest	Molto spesso (80–99%)
Abnormality of the skeletal system	Spesso (30–79%)
Flexed joint that cannot be straightened	Spesso (30–79%)
Funnel chest	Spesso (30–79%)
Hypoplastic iliac wing	Spesso (30–79%)
Kyphoscoliosis	Spesso (30–79%)
Low muscle tone, in neonatal onset	Spesso (30–79%)
Abnormality of the costochondral junction	A volte (5–29%)
Absent glenoid fossa	A volte (5–29%)
Anterior rib cupping	A volte (5–29%)
Decreased muscle tone in infant	A volte (5–29%)
Long collarbone	A volte (5–29%)
Missing part of vertebrae	A volte (5–29%)
Narrow chest	A volte (5–29%)
Permanent flexion of the finger or toe	A volte (5–29%)
Prominent sternum	A volte (5–29%)
Scoliosis	A volte (5–29%)
Short ribs	A volte (5–29%)
Small shoulder blade	A volte (5–29%)
Small wings of the pelvic girdle	A volte (5–29%)
Speckled calcifications in end part of bone	A volte (5–29%)
Wavy ribs	A volte (5–29%)

Abnormality of the nervous system

Tratto	Frequenza di osservazione
Delayed speech and language development	Molto spesso (80–99%)
Global developmental delay	Molto spesso (80–99%)
Intellectual disability, mild	Molto spesso (80–99%)
Motor delay	Molto spesso (80–99%)
Intellectual disability	Spesso (30–79%)
Autism spectrum disorder	A volte (5–29%)
Delayed motor skills	A volte (5–29%)
Epilepsy	A volte (5–29%)
Fewer or absent grooves in brain	A volte (5–29%)
Moderate global developmental delay	A volte (5–29%)
Poor eye contact	A volte (5–29%)
Poor fine motor coordination	A volte (5–29%)
Poor social interactions	A volte (5–29%)
Severe global developmental delay	A volte (5–29%)
Spinal dysraphism	A volte (5–29%)

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Feeding difficulties	Molto spesso (80–99%)
Feeding difficulties in infancy	Molto spesso (80–99%)
Gap between large left and right abdominal muscles	Spesso (30–79%)
Inguinal hernia	Spesso (30–79%)
Poor suck	Spesso (30–79%)
Umbilical hernia	Spesso (30–79%)
Belly sticks out	A volte (5–29%)
Enlarged liver	A volte (5–29%)
Gastrostomy tube feeding in infancy	A volte (5–29%)
Hepatoblastoma	A volte (5–29%)
Hernia of the abdominal wall	A volte (5–29%)
Omphalocele	A volte (5–29%)
Pyloric stenosis	A volte (5–29%)

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Abnormal aortic arch morphology	A volte (5–29%)
Abnormality of the heart	A volte (5–29%)
An opening in the wall separating the top two chambers of the heart	A volte (5–29%)
Avascular peripheral retina	A volte (5–29%)
Enlarged and thickened heart muscle	A volte (5–29%)
Enlarged liver and spleen	A volte (5–29%)
Hole in heart wall separating two lower heart chambers	A volte (5–29%)
Increased blood pressure in blood vessels of lungs	A volte (5–29%)
Narrowing of lung artery	A volte (5–29%)

Growth abnormality

Tratto	Frequenza di osservazione
Growth delay as children	Molto spesso (80–99%)
Prenatal growth deficiency	Molto spesso (80–99%)
Birth weight > 90th percentile	Spesso (30–79%)
Growth delay	Spesso (30–79%)
Obesity	Spesso (30–79%)
Short stature	Spesso (30–79%)
Small for gestational age	Spesso (30–79%)
Truncal obesity	Spesso (30–79%)
General overgrowth	A volte (5–29%)

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Abnormality of the genitourinary system	A volte (5–29%)
Hydronephrosis	A volte (5–29%)
Underdevelopment of external reproductive organs	A volte (5–29%)
Undescended testes	A volte (5–29%)

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Respiratory failure	Spesso (30–79%)
Poorly developed lungs	A volte (5–29%)
Softening of voice box tissue	A volte (5–29%)
Stiff lung or chest wall causing decreased lung volume	A volte (5–29%)

Abnormality of prenatal development or birth

Tratto	Frequenza di osservazione
High levels of amniotic fluid	Molto spesso (80–99%)
Large placenta	Molto spesso (80–99%)
Premature birth	Spesso (30–79%)

Abnormality of the breast

Tratto	Frequenza di osservazione
Inverted nipples	A volte (5–29%)
Small nipples	A volte (5–29%)
Wide-spaced nipples	A volte (5–29%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Small ears	Spesso (30–79%)
Ears rotated toward back of head	A volte (5–29%)
Recurrent middle ear infection	A volte (5–29%)

Abnormality of the eye

Tratto	Frequenza di osservazione
Deeply set eye	A volte (5–29%)
Inward turning cross eyed	A volte (5–29%)

Abnormality of the integument

Tratto	Frequenza di osservazione
Hanging skin	A volte (5–29%)
Small nail	A volte (5–29%)

Laboratory abnormality

Tratto	Frequenza di osservazione
Elevated serum cholesterol	A volte (5–29%)
Maturity-onset diabetes of the young	A volte (5–29%)

Abnormality of the endocrine system

Tratto	Frequenza di osservazione
Early onset of puberty	Molto spesso (80–99%)

Abnormality of the voice

Tratto	Frequenza di osservazione
Hoarse cry	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a RTL1 e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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