특성

RTL1 연관 특성

retrotransposon Gag like 1

인간 표현형 온톨로지가 RTL1에 연결하는 특성은 168개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the musculoskeletal system

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

Abnormality of the nervous system

특성	나타나는 빈도
Delayed speech and language development	매우 자주 (80–99%)
Global developmental delay	매우 자주 (80–99%)
Intellectual disability, mild	매우 자주 (80–99%)
Motor delay	매우 자주 (80–99%)
Intellectual disability	자주 (30–79%)
Autism spectrum disorder	가끔 (5–29%)
Delayed motor skills	가끔 (5–29%)
Epilepsy	가끔 (5–29%)
Fewer or absent grooves in brain	가끔 (5–29%)
Moderate global developmental delay	가끔 (5–29%)
Poor eye contact	가끔 (5–29%)
Poor fine motor coordination	가끔 (5–29%)
Poor social interactions	가끔 (5–29%)
Severe global developmental delay	가끔 (5–29%)
Spinal dysraphism	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Feeding difficulties	매우 자주 (80–99%)
Feeding difficulties in infancy	매우 자주 (80–99%)
Gap between large left and right abdominal muscles	자주 (30–79%)
Inguinal hernia	자주 (30–79%)
Poor suck	자주 (30–79%)
Umbilical hernia	자주 (30–79%)
Belly sticks out	가끔 (5–29%)
Enlarged liver	가끔 (5–29%)
Gastrostomy tube feeding in infancy	가끔 (5–29%)
Hepatoblastoma	가끔 (5–29%)
Hernia of the abdominal wall	가끔 (5–29%)
Omphalocele	가끔 (5–29%)
Pyloric stenosis	가끔 (5–29%)

Abnormality of the cardiovascular system

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

Growth abnormality

특성	나타나는 빈도
Growth delay as children	매우 자주 (80–99%)
Prenatal growth deficiency	매우 자주 (80–99%)
Birth weight > 90th percentile	자주 (30–79%)
Growth delay	자주 (30–79%)
Obesity	자주 (30–79%)
Short stature	자주 (30–79%)
Small for gestational age	자주 (30–79%)
Truncal obesity	자주 (30–79%)
General overgrowth	가끔 (5–29%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Abnormality of the genitourinary system	가끔 (5–29%)
Hydronephrosis	가끔 (5–29%)
Underdevelopment of external reproductive organs	가끔 (5–29%)
Undescended testes	가끔 (5–29%)

Abnormality of the respiratory system

특성	나타나는 빈도
Respiratory failure	자주 (30–79%)
Poorly developed lungs	가끔 (5–29%)
Softening of voice box tissue	가끔 (5–29%)
Stiff lung or chest wall causing decreased lung volume	가끔 (5–29%)

Abnormality of prenatal development or birth

특성	나타나는 빈도
High levels of amniotic fluid	매우 자주 (80–99%)
Large placenta	매우 자주 (80–99%)
Premature birth	자주 (30–79%)

Abnormality of the breast

특성	나타나는 빈도
Inverted nipples	가끔 (5–29%)
Small nipples	가끔 (5–29%)
Wide-spaced nipples	가끔 (5–29%)

Abnormality of the ear

특성	나타나는 빈도
Small ears	자주 (30–79%)
Ears rotated toward back of head	가끔 (5–29%)
Recurrent middle ear infection	가끔 (5–29%)

Abnormality of the eye

특성	나타나는 빈도
Deeply set eye	가끔 (5–29%)
Inward turning cross eyed	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Hanging skin	가끔 (5–29%)
Small nail	가끔 (5–29%)

Laboratory abnormality

특성	나타나는 빈도
Elevated serum cholesterol	가끔 (5–29%)
Maturity-onset diabetes of the young	가끔 (5–29%)

Abnormality of the endocrine system

특성	나타나는 빈도
Early onset of puberty	매우 자주 (80–99%)

Abnormality of the voice

특성	나타나는 빈도
Hoarse cry	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: RTL1에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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