Egenskaper

Egenskaper kopplade till RTL1

retrotransposon Gag like 1

Human Phenotype Ontology kopplar 168 egenskaper till RTL1, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

RTL1

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

Egenskap	Hur ofta den förekommer
Delayed speech and language development	Mycket ofta (80–99 %)
Global developmental delay	Mycket ofta (80–99 %)
Intellectual disability, mild	Mycket ofta (80–99 %)
Motor delay	Mycket ofta (80–99 %)
Intellectual disability	Ofta (30–79 %)
Autism spectrum disorder	Ibland (5–29 %)
Delayed motor skills	Ibland (5–29 %)
Epilepsy	Ibland (5–29 %)
Fewer or absent grooves in brain	Ibland (5–29 %)
Moderate global developmental delay	Ibland (5–29 %)
Poor eye contact	Ibland (5–29 %)
Poor fine motor coordination	Ibland (5–29 %)
Poor social interactions	Ibland (5–29 %)
Severe global developmental delay	Ibland (5–29 %)
Spinal dysraphism	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Feeding difficulties	Mycket ofta (80–99 %)
Feeding difficulties in infancy	Mycket ofta (80–99 %)
Gap between large left and right abdominal muscles	Ofta (30–79 %)
Inguinal hernia	Ofta (30–79 %)
Poor suck	Ofta (30–79 %)
Umbilical hernia	Ofta (30–79 %)
Belly sticks out	Ibland (5–29 %)
Enlarged liver	Ibland (5–29 %)
Gastrostomy tube feeding in infancy	Ibland (5–29 %)
Hepatoblastoma	Ibland (5–29 %)
Hernia of the abdominal wall	Ibland (5–29 %)
Omphalocele	Ibland (5–29 %)
Pyloric stenosis	Ibland (5–29 %)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Abnormal aortic arch morphology	Ibland (5–29 %)
Abnormality of the heart	Ibland (5–29 %)
An opening in the wall separating the top two chambers of the heart	Ibland (5–29 %)
Avascular peripheral retina	Ibland (5–29 %)
Enlarged and thickened heart muscle	Ibland (5–29 %)
Enlarged liver and spleen	Ibland (5–29 %)
Hole in heart wall separating two lower heart chambers	Ibland (5–29 %)
Increased blood pressure in blood vessels of lungs	Ibland (5–29 %)
Narrowing of lung artery	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Growth delay as children	Mycket ofta (80–99 %)
Prenatal growth deficiency	Mycket ofta (80–99 %)
Birth weight > 90th percentile	Ofta (30–79 %)
Growth delay	Ofta (30–79 %)
Obesity	Ofta (30–79 %)
Short stature	Ofta (30–79 %)
Small for gestational age	Ofta (30–79 %)
Truncal obesity	Ofta (30–79 %)
General overgrowth	Ibland (5–29 %)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Abnormality of the genitourinary system	Ibland (5–29 %)
Hydronephrosis	Ibland (5–29 %)
Underdevelopment of external reproductive organs	Ibland (5–29 %)
Undescended testes	Ibland (5–29 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Respiratory failure	Ofta (30–79 %)
Poorly developed lungs	Ibland (5–29 %)
Softening of voice box tissue	Ibland (5–29 %)
Stiff lung or chest wall causing decreased lung volume	Ibland (5–29 %)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
High levels of amniotic fluid	Mycket ofta (80–99 %)
Large placenta	Mycket ofta (80–99 %)
Premature birth	Ofta (30–79 %)

Abnormality of the breast

Egenskap	Hur ofta den förekommer
Inverted nipples	Ibland (5–29 %)
Small nipples	Ibland (5–29 %)
Wide-spaced nipples	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Small ears	Ofta (30–79 %)
Ears rotated toward back of head	Ibland (5–29 %)
Recurrent middle ear infection	Ibland (5–29 %)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Deeply set eye	Ibland (5–29 %)
Inward turning cross eyed	Ibland (5–29 %)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Hanging skin	Ibland (5–29 %)
Small nail	Ibland (5–29 %)

Laboratory abnormality

Egenskap	Hur ofta den förekommer
Elevated serum cholesterol	Ibland (5–29 %)
Maturity-onset diabetes of the young	Ibland (5–29 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Early onset of puberty	Mycket ofta (80–99 %)

Abnormality of the voice

Egenskap	Hur ofta den förekommer
Hoarse cry	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till RTL1 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

Ett test. Ett helt liv av svar.

Från 449 $Fri frakt · Resultat inom 6–8 veckor

Beställ mitt Genome Test