Özellikler

RTL1 ile ilişkili özellikler

retrotransposon Gag like 1

Human Phenotype Ontology, RTL1 ile ilişkili 168 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

RTL1

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

Özellik	Ne sıklıkla görüldüğü
Delayed speech and language development	Çok sık (%80–99)
Global developmental delay	Çok sık (%80–99)
Intellectual disability, mild	Çok sık (%80–99)
Motor delay	Çok sık (%80–99)
Intellectual disability	Sık (%30–79)
Autism spectrum disorder	Bazen (%5–29)
Delayed motor skills	Bazen (%5–29)
Epilepsy	Bazen (%5–29)
Fewer or absent grooves in brain	Bazen (%5–29)
Moderate global developmental delay	Bazen (%5–29)
Poor eye contact	Bazen (%5–29)
Poor fine motor coordination	Bazen (%5–29)
Poor social interactions	Bazen (%5–29)
Severe global developmental delay	Bazen (%5–29)
Spinal dysraphism	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Feeding difficulties	Çok sık (%80–99)
Feeding difficulties in infancy	Çok sık (%80–99)
Gap between large left and right abdominal muscles	Sık (%30–79)
Inguinal hernia	Sık (%30–79)
Poor suck	Sık (%30–79)
Umbilical hernia	Sık (%30–79)
Belly sticks out	Bazen (%5–29)
Enlarged liver	Bazen (%5–29)
Gastrostomy tube feeding in infancy	Bazen (%5–29)
Hepatoblastoma	Bazen (%5–29)
Hernia of the abdominal wall	Bazen (%5–29)
Omphalocele	Bazen (%5–29)
Pyloric stenosis	Bazen (%5–29)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Abnormal aortic arch morphology	Bazen (%5–29)
Abnormality of the heart	Bazen (%5–29)
An opening in the wall separating the top two chambers of the heart	Bazen (%5–29)
Avascular peripheral retina	Bazen (%5–29)
Enlarged and thickened heart muscle	Bazen (%5–29)
Enlarged liver and spleen	Bazen (%5–29)
Hole in heart wall separating two lower heart chambers	Bazen (%5–29)
Increased blood pressure in blood vessels of lungs	Bazen (%5–29)
Narrowing of lung artery	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Growth delay as children	Çok sık (%80–99)
Prenatal growth deficiency	Çok sık (%80–99)
Birth weight > 90th percentile	Sık (%30–79)
Growth delay	Sık (%30–79)
Obesity	Sık (%30–79)
Short stature	Sık (%30–79)
Small for gestational age	Sık (%30–79)
Truncal obesity	Sık (%30–79)
General overgrowth	Bazen (%5–29)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the genitourinary system	Bazen (%5–29)
Hydronephrosis	Bazen (%5–29)
Underdevelopment of external reproductive organs	Bazen (%5–29)
Undescended testes	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Respiratory failure	Sık (%30–79)
Poorly developed lungs	Bazen (%5–29)
Softening of voice box tissue	Bazen (%5–29)
Stiff lung or chest wall causing decreased lung volume	Bazen (%5–29)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
High levels of amniotic fluid	Çok sık (%80–99)
Large placenta	Çok sık (%80–99)
Premature birth	Sık (%30–79)

Abnormality of the breast

Özellik	Ne sıklıkla görüldüğü
Inverted nipples	Bazen (%5–29)
Small nipples	Bazen (%5–29)
Wide-spaced nipples	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Small ears	Sık (%30–79)
Ears rotated toward back of head	Bazen (%5–29)
Recurrent middle ear infection	Bazen (%5–29)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Deeply set eye	Bazen (%5–29)
Inward turning cross eyed	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Hanging skin	Bazen (%5–29)
Small nail	Bazen (%5–29)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Elevated serum cholesterol	Bazen (%5–29)
Maturity-onset diabetes of the young	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Early onset of puberty	Çok sık (%80–99)

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Hoarse cry	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: RTL1 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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