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

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Multiple exostoses	Întotdeauna
Osteochondroma	Întotdeauna
Bone pain	Foarte des (80–99%)
Delayed bone maturation	Foarte des (80–99%)
Formation of new noncancerous bone on top of existing bone	Foarte des (80–99%)
Multiple long-bone exostoses	Foarte des (80–99%)
Abnormal bone structure	Des (30–79%)
Abnormal shape of cartilage	Des (30–79%)
Double-Jointed	Des (30–79%)
Functional motor deficit	Des (30–79%)
Joint dislocation	Des (30–79%)
Limitation of joint mobility	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Arthritis	Uneori (5–29%)
Bursitis	Uneori (5–29%)
Chondrosarcoma	Uneori (5–29%)
Limited hip movement	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Short long bone	Uneori (5–29%)
Abnormal shape of pelvis bone	Rar (1–4%)
Bone fracture	Rar (1–4%)
Neuropathic spinal arthropathy	Rar (1–4%)
Rib exostoses	Rar (1–4%)
Scapular exostoses	Rar (1–4%)
Pelvic bone exostoses	Neînregistrat
Protuberances at ends of long bones	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Bulbous nose	Foarte des (80–99%)
Deep philtrum	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Sparse scalp hair	Foarte des (80–99%)
Thin red part of the upper lip	Foarte des (80–99%)
Aplasia/Hypoplasia of the mandible	Des (30–79%)
Thick eyebrow	Des (30–79%)
Abnormal dentition	Uneori (5–29%)
Abnormality of the palate	Uneori (5–29%)
Abnormally small head	Uneori (5–29%)
Extra teeth	Uneori (5–29%)
Thick nasal alae	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Intellectual disability	Des (30–79%)
Somatic sensory dysfunction	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Cervical myelopathy	Rar (1–4%)
Fluid-filled cyst in spinal cord	Rar (1–4%)
Peripheral nerve compression	Rar (1–4%)
Pressure on spinal cord	Rar (1–4%)
Tethered cord	Rar (1–4%)

Constitutional symptom

Trait	Cât de frecvent apare
Pain	Des (30–79%)
Muscle ache	Uneori (5–29%)
Tendon pain	Uneori (5–29%)
Chest pain	Rar (1–4%)

Abnormality of the ear

Trait	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Prominent ear	Foarte des (80–99%)
Conductive deafness	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Frequent urinary tract infections	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Urinary retention	Rar (1–4%)

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Growth delay	Uneori (5–29%)
Uneven or disproportionate growth of one body part compared to another	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
Pseudoaneurysm	Rar (1–4%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Intestinal obstruction	Rar (1–4%)
Poor swallowing	Rar (1–4%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Collapsed lung	Rar (1–4%)
Hemothorax	Rar (1–4%)

Abnormality of the integument

Trait	Cât de frecvent apare
Loose redundant skin	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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