Traits

Traits linked to EXT1

exostosin glycosyltransferase 1

The Human Phenotype Ontology links 97 traits to EXT1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	나타나는 빈도
Cone-shaped end part of finger bones	매우 자주 (80–99%)
Abnormal shape of bones of the lower limbs	자주 (30–79%)
Abnormality of the knee	자주 (30–79%)
Abnormality of the thighbone	자주 (30–79%)
Deformed forearm bones	자주 (30–79%)
Abnormal morphology of ulna	가끔 (5–29%)
Abnormal shape of hand	가끔 (5–29%)
Abnormality of the calf bone	가끔 (5–29%)
Abnormality of the shankbone	가끔 (5–29%)
Avascular necrosis of the capital femoral epiphysis	가끔 (5–29%)
Bilateral single transverse palmar creases	가끔 (5–29%)
Bowing of the long bones	가끔 (5–29%)
Broad wide portion of long bone	가끔 (5–29%)
Coxa valga	가끔 (5–29%)
Deformed radius	가끔 (5–29%)
Femoroacetabular impingement	가끔 (5–29%)
Forearm undergrowth	가끔 (5–29%)
Knock knees	가끔 (5–29%)
Left and right leg differ in length or width	가끔 (5–29%)
Limb undergrowth	가끔 (5–29%)
Limitation of knee mobility	가끔 (5–29%)
Short fingers or toes	가끔 (5–29%)
Short lower limbs	가끔 (5–29%)
Shortened long bone of hand	가끔 (5–29%)
Talipes	가끔 (5–29%)
Abnormal ankle bones	드물게 (1–4%)
Abnormal wrist bones	드물게 (1–4%)
Talipes valgus	드물게 (1–4%)
Coxa vara	기록되지 않음
Madelung-like forearm deformities	기록되지 않음

Trait	나타나는 빈도
Multiple exostoses	항상
Osteochondroma	항상
Bone pain	매우 자주 (80–99%)
Delayed bone maturation	매우 자주 (80–99%)
Formation of new noncancerous bone on top of existing bone	매우 자주 (80–99%)
Multiple long-bone exostoses	매우 자주 (80–99%)
Abnormal bone structure	자주 (30–79%)
Abnormal shape of cartilage	자주 (30–79%)
Double-Jointed	자주 (30–79%)
Functional motor deficit	자주 (30–79%)
Joint dislocation	자주 (30–79%)
Limitation of joint mobility	자주 (30–79%)
Abnormal formation of the hip	가끔 (5–29%)
Arthritis	가끔 (5–29%)
Bursitis	가끔 (5–29%)
Chondrosarcoma	가끔 (5–29%)
Limited hip movement	가끔 (5–29%)
Low muscle tone	가끔 (5–29%)
Short long bone	가끔 (5–29%)
Abnormal shape of pelvis bone	드물게 (1–4%)
Bone fracture	드물게 (1–4%)
Neuropathic spinal arthropathy	드물게 (1–4%)
Rib exostoses	드물게 (1–4%)
Scapular exostoses	드물게 (1–4%)
Pelvic bone exostoses	기록되지 않음
Protuberances at ends of long bones	기록되지 않음

Trait	나타나는 빈도
Bulbous nose	매우 자주 (80–99%)
Deep philtrum	매우 자주 (80–99%)
Long philtrum	매우 자주 (80–99%)
Sparse scalp hair	매우 자주 (80–99%)
Thin red part of the upper lip	매우 자주 (80–99%)
Aplasia/Hypoplasia of the mandible	자주 (30–79%)
Thick eyebrow	자주 (30–79%)
Abnormal dentition	가끔 (5–29%)
Abnormality of the palate	가끔 (5–29%)
Abnormally small head	가끔 (5–29%)
Extra teeth	가끔 (5–29%)
Thick nasal alae	가끔 (5–29%)
Wide nasal bridge	가끔 (5–29%)

Trait	나타나는 빈도
Intellectual disability	자주 (30–79%)
Somatic sensory dysfunction	가끔 (5–29%)
Ventriculomegaly	가끔 (5–29%)
Cervical myelopathy	드물게 (1–4%)
Fluid-filled cyst in spinal cord	드물게 (1–4%)
Peripheral nerve compression	드물게 (1–4%)
Pressure on spinal cord	드물게 (1–4%)
Tethered cord	드물게 (1–4%)

Trait	나타나는 빈도
Ears rotated toward back of head	매우 자주 (80–99%)
Prominent ear	매우 자주 (80–99%)
Conductive deafness	가끔 (5–29%)

Trait	나타나는 빈도
Frequent urinary tract infections	가끔 (5–29%)
Vesicoureteral reflux	가끔 (5–29%)
Urinary retention	드물게 (1–4%)

Trait	나타나는 빈도
Short stature	매우 자주 (80–99%)
Growth delay	가끔 (5–29%)
Uneven or disproportionate growth of one body part compared to another	가끔 (5–29%)

Trait	나타나는 빈도
Abnormal cardiovascular system morphology	가끔 (5–29%)
Pseudoaneurysm	드물게 (1–4%)

Trait	나타나는 빈도
Intestinal obstruction	드물게 (1–4%)
Poor swallowing	드물게 (1–4%)

Trait	나타나는 빈도
Collapsed lung	드물게 (1–4%)
Hemothorax	드물게 (1–4%)

Trait	나타나는 빈도
Loose redundant skin	자주 (30–79%)

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.

The Human Phenotype Ontology, release 2026-09-01: the traits linked to EXT1 and how often each is seen. Find out more at hpo.jax.org.

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