Kjennetegn

Kjennetegn knyttet til RTL1

retrotransposon Gag like 1

Human Phenotype Ontology knytter 168 kjennetegn til RTL1, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

RTL1

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Delayed speech and language development	Svært ofte (80–99 %)
Global developmental delay	Svært ofte (80–99 %)
Intellectual disability, mild	Svært ofte (80–99 %)
Motor delay	Svært ofte (80–99 %)
Intellectual disability	Ofte (30–79 %)
Autism spectrum disorder	Noen ganger (5–29 %)
Delayed motor skills	Noen ganger (5–29 %)
Epilepsy	Noen ganger (5–29 %)
Fewer or absent grooves in brain	Noen ganger (5–29 %)
Moderate global developmental delay	Noen ganger (5–29 %)
Poor eye contact	Noen ganger (5–29 %)
Poor fine motor coordination	Noen ganger (5–29 %)
Poor social interactions	Noen ganger (5–29 %)
Severe global developmental delay	Noen ganger (5–29 %)
Spinal dysraphism	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties	Svært ofte (80–99 %)
Feeding difficulties in infancy	Svært ofte (80–99 %)
Gap between large left and right abdominal muscles	Ofte (30–79 %)
Inguinal hernia	Ofte (30–79 %)
Poor suck	Ofte (30–79 %)
Umbilical hernia	Ofte (30–79 %)
Belly sticks out	Noen ganger (5–29 %)
Enlarged liver	Noen ganger (5–29 %)
Gastrostomy tube feeding in infancy	Noen ganger (5–29 %)
Hepatoblastoma	Noen ganger (5–29 %)
Hernia of the abdominal wall	Noen ganger (5–29 %)
Omphalocele	Noen ganger (5–29 %)
Pyloric stenosis	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Abnormal aortic arch morphology	Noen ganger (5–29 %)
Abnormality of the heart	Noen ganger (5–29 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Avascular peripheral retina	Noen ganger (5–29 %)
Enlarged and thickened heart muscle	Noen ganger (5–29 %)
Enlarged liver and spleen	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Noen ganger (5–29 %)
Increased blood pressure in blood vessels of lungs	Noen ganger (5–29 %)
Narrowing of lung artery	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Growth delay as children	Svært ofte (80–99 %)
Prenatal growth deficiency	Svært ofte (80–99 %)
Birth weight > 90th percentile	Ofte (30–79 %)
Growth delay	Ofte (30–79 %)
Obesity	Ofte (30–79 %)
Short stature	Ofte (30–79 %)
Small for gestational age	Ofte (30–79 %)
Truncal obesity	Ofte (30–79 %)
General overgrowth	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the genitourinary system	Noen ganger (5–29 %)
Hydronephrosis	Noen ganger (5–29 %)
Underdevelopment of external reproductive organs	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Respiratory failure	Ofte (30–79 %)
Poorly developed lungs	Noen ganger (5–29 %)
Softening of voice box tissue	Noen ganger (5–29 %)
Stiff lung or chest wall causing decreased lung volume	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
High levels of amniotic fluid	Svært ofte (80–99 %)
Large placenta	Svært ofte (80–99 %)
Premature birth	Ofte (30–79 %)

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Inverted nipples	Noen ganger (5–29 %)
Small nipples	Noen ganger (5–29 %)
Wide-spaced nipples	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Small ears	Ofte (30–79 %)
Ears rotated toward back of head	Noen ganger (5–29 %)
Recurrent middle ear infection	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Deeply set eye	Noen ganger (5–29 %)
Inward turning cross eyed	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Hanging skin	Noen ganger (5–29 %)
Small nail	Noen ganger (5–29 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Elevated serum cholesterol	Noen ganger (5–29 %)
Maturity-onset diabetes of the young	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Early onset of puberty	Svært ofte (80–99 %)

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Hoarse cry	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til RTL1 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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