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

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Multiple exostoses	Alltid
Osteochondroma	Alltid
Bone pain	Svært ofte (80–99 %)
Delayed bone maturation	Svært ofte (80–99 %)
Formation of new noncancerous bone on top of existing bone	Svært ofte (80–99 %)
Multiple long-bone exostoses	Svært ofte (80–99 %)
Abnormal bone structure	Ofte (30–79 %)
Abnormal shape of cartilage	Ofte (30–79 %)
Double-Jointed	Ofte (30–79 %)
Functional motor deficit	Ofte (30–79 %)
Joint dislocation	Ofte (30–79 %)
Limitation of joint mobility	Ofte (30–79 %)
Abnormal formation of the hip	Noen ganger (5–29 %)
Arthritis	Noen ganger (5–29 %)
Bursitis	Noen ganger (5–29 %)
Chondrosarcoma	Noen ganger (5–29 %)
Limited hip movement	Noen ganger (5–29 %)
Low muscle tone	Noen ganger (5–29 %)
Short long bone	Noen ganger (5–29 %)
Abnormal shape of pelvis bone	Sjelden (1–4%)
Bone fracture	Sjelden (1–4%)
Neuropathic spinal arthropathy	Sjelden (1–4%)
Rib exostoses	Sjelden (1–4%)
Scapular exostoses	Sjelden (1–4%)
Pelvic bone exostoses	Ikke registrert
Protuberances at ends of long bones	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Bulbous nose	Svært ofte (80–99 %)
Deep philtrum	Svært ofte (80–99 %)
Long philtrum	Svært ofte (80–99 %)
Sparse scalp hair	Svært ofte (80–99 %)
Thin red part of the upper lip	Svært ofte (80–99 %)
Aplasia/Hypoplasia of the mandible	Ofte (30–79 %)
Thick eyebrow	Ofte (30–79 %)
Abnormal dentition	Noen ganger (5–29 %)
Abnormality of the palate	Noen ganger (5–29 %)
Abnormally small head	Noen ganger (5–29 %)
Extra teeth	Noen ganger (5–29 %)
Thick nasal alae	Noen ganger (5–29 %)
Wide nasal bridge	Noen ganger (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Intellectual disability	Ofte (30–79 %)
Somatic sensory dysfunction	Noen ganger (5–29 %)
Ventriculomegaly	Noen ganger (5–29 %)
Cervical myelopathy	Sjelden (1–4%)
Fluid-filled cyst in spinal cord	Sjelden (1–4%)
Peripheral nerve compression	Sjelden (1–4%)
Pressure on spinal cord	Sjelden (1–4%)
Tethered cord	Sjelden (1–4%)

Constitutional symptom

Trait	Hvor ofte den forekommer
Pain	Ofte (30–79 %)
Muscle ache	Noen ganger (5–29 %)
Tendon pain	Noen ganger (5–29 %)
Chest pain	Sjelden (1–4%)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Ears rotated toward back of head	Svært ofte (80–99 %)
Prominent ear	Svært ofte (80–99 %)
Conductive deafness	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Frequent urinary tract infections	Noen ganger (5–29 %)
Vesicoureteral reflux	Noen ganger (5–29 %)
Urinary retention	Sjelden (1–4%)

Growth abnormality

Trait	Hvor ofte den forekommer
Short stature	Svært ofte (80–99 %)
Growth delay	Noen ganger (5–29 %)
Uneven or disproportionate growth of one body part compared to another	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
Pseudoaneurysm	Sjelden (1–4%)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Intestinal obstruction	Sjelden (1–4%)
Poor swallowing	Sjelden (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Collapsed lung	Sjelden (1–4%)
Hemothorax	Sjelden (1–4%)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Loose redundant skin	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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