Kenmerken

Kenmerken gekoppeld aan RTL1

retrotransposon Gag like 1

De Human Phenotype Ontology koppelt 168 kenmerken aan RTL1, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

RTL1

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

Kenmerk	Hoe vaak het voorkomt
Delayed speech and language development	Heel vaak (80–99%)
Global developmental delay	Heel vaak (80–99%)
Intellectual disability, mild	Heel vaak (80–99%)
Motor delay	Heel vaak (80–99%)
Intellectual disability	Vaak (30–79%)
Autism spectrum disorder	Soms (5–29%)
Delayed motor skills	Soms (5–29%)
Epilepsy	Soms (5–29%)
Fewer or absent grooves in brain	Soms (5–29%)
Moderate global developmental delay	Soms (5–29%)
Poor eye contact	Soms (5–29%)
Poor fine motor coordination	Soms (5–29%)
Poor social interactions	Soms (5–29%)
Severe global developmental delay	Soms (5–29%)
Spinal dysraphism	Soms (5–29%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Feeding difficulties	Heel vaak (80–99%)
Feeding difficulties in infancy	Heel vaak (80–99%)
Gap between large left and right abdominal muscles	Vaak (30–79%)
Inguinal hernia	Vaak (30–79%)
Poor suck	Vaak (30–79%)
Umbilical hernia	Vaak (30–79%)
Belly sticks out	Soms (5–29%)
Enlarged liver	Soms (5–29%)
Gastrostomy tube feeding in infancy	Soms (5–29%)
Hepatoblastoma	Soms (5–29%)
Hernia of the abdominal wall	Soms (5–29%)
Omphalocele	Soms (5–29%)
Pyloric stenosis	Soms (5–29%)

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Abnormal aortic arch morphology	Soms (5–29%)
Abnormality of the heart	Soms (5–29%)
An opening in the wall separating the top two chambers of the heart	Soms (5–29%)
Avascular peripheral retina	Soms (5–29%)
Enlarged and thickened heart muscle	Soms (5–29%)
Enlarged liver and spleen	Soms (5–29%)
Hole in heart wall separating two lower heart chambers	Soms (5–29%)
Increased blood pressure in blood vessels of lungs	Soms (5–29%)
Narrowing of lung artery	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Growth delay as children	Heel vaak (80–99%)
Prenatal growth deficiency	Heel vaak (80–99%)
Birth weight > 90th percentile	Vaak (30–79%)
Growth delay	Vaak (30–79%)
Obesity	Vaak (30–79%)
Short stature	Vaak (30–79%)
Small for gestational age	Vaak (30–79%)
Truncal obesity	Vaak (30–79%)
General overgrowth	Soms (5–29%)

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Abnormality of the genitourinary system	Soms (5–29%)
Hydronephrosis	Soms (5–29%)
Underdevelopment of external reproductive organs	Soms (5–29%)
Undescended testes	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Respiratory failure	Vaak (30–79%)
Poorly developed lungs	Soms (5–29%)
Softening of voice box tissue	Soms (5–29%)
Stiff lung or chest wall causing decreased lung volume	Soms (5–29%)

Abnormality of prenatal development or birth

Kenmerk	Hoe vaak het voorkomt
High levels of amniotic fluid	Heel vaak (80–99%)
Large placenta	Heel vaak (80–99%)
Premature birth	Vaak (30–79%)

Abnormality of the breast

Kenmerk	Hoe vaak het voorkomt
Inverted nipples	Soms (5–29%)
Small nipples	Soms (5–29%)
Wide-spaced nipples	Soms (5–29%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Small ears	Vaak (30–79%)
Ears rotated toward back of head	Soms (5–29%)
Recurrent middle ear infection	Soms (5–29%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Deeply set eye	Soms (5–29%)
Inward turning cross eyed	Soms (5–29%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Hanging skin	Soms (5–29%)
Small nail	Soms (5–29%)

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
Elevated serum cholesterol	Soms (5–29%)
Maturity-onset diabetes of the young	Soms (5–29%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Early onset of puberty	Heel vaak (80–99%)

Abnormality of the voice

Kenmerk	Hoe vaak het voorkomt
Hoarse cry	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan RTL1 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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