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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

TraitHoe vaak het voorkomt
Cone-shaped end part of finger bonesHeel vaak (80–99%)
Abnormal shape of bones of the lower limbsVaak (30–79%)
Abnormality of the kneeVaak (30–79%)
Abnormality of the thighboneVaak (30–79%)
Deformed forearm bonesVaak (30–79%)
Abnormal morphology of ulnaSoms (5–29%)
Abnormal shape of handSoms (5–29%)
Abnormality of the calf boneSoms (5–29%)
Abnormality of the shankboneSoms (5–29%)
Avascular necrosis of the capital femoral epiphysisSoms (5–29%)
Bilateral single transverse palmar creasesSoms (5–29%)
Bowing of the long bonesSoms (5–29%)
Broad wide portion of long boneSoms (5–29%)
Coxa valgaSoms (5–29%)
Deformed radiusSoms (5–29%)
Femoroacetabular impingementSoms (5–29%)
Forearm undergrowthSoms (5–29%)
Knock kneesSoms (5–29%)
Left and right leg differ in length or widthSoms (5–29%)
Limb undergrowthSoms (5–29%)
Limitation of knee mobilitySoms (5–29%)
Short fingers or toesSoms (5–29%)
Short lower limbsSoms (5–29%)
Shortened long bone of handSoms (5–29%)
TalipesSoms (5–29%)
Abnormal ankle bonesZelden (1–4%)
Abnormal wrist bonesZelden (1–4%)
Talipes valgusZelden (1–4%)
Coxa varaNiet vastgelegd
Madelung-like forearm deformitiesNiet vastgelegd

Abnormality of the musculoskeletal system

TraitHoe vaak het voorkomt
Multiple exostosesAltijd
OsteochondromaAltijd
Bone painHeel vaak (80–99%)
Delayed bone maturationHeel vaak (80–99%)
Formation of new noncancerous bone on top of existing boneHeel vaak (80–99%)
Multiple long-bone exostosesHeel vaak (80–99%)
Abnormal bone structureVaak (30–79%)
Abnormal shape of cartilageVaak (30–79%)
Double-JointedVaak (30–79%)
Functional motor deficitVaak (30–79%)
Joint dislocationVaak (30–79%)
Limitation of joint mobilityVaak (30–79%)
Abnormal formation of the hipSoms (5–29%)
ArthritisSoms (5–29%)
BursitisSoms (5–29%)
ChondrosarcomaSoms (5–29%)
Limited hip movementSoms (5–29%)
Low muscle toneSoms (5–29%)
Short long boneSoms (5–29%)
Abnormal shape of pelvis boneZelden (1–4%)
Bone fractureZelden (1–4%)
Neuropathic spinal arthropathyZelden (1–4%)
Rib exostosesZelden (1–4%)
Scapular exostosesZelden (1–4%)
Pelvic bone exostosesNiet vastgelegd
Protuberances at ends of long bonesNiet vastgelegd

Abnormality of head or neck

TraitHoe vaak het voorkomt
Bulbous noseHeel vaak (80–99%)
Deep philtrumHeel vaak (80–99%)
Long philtrumHeel vaak (80–99%)
Sparse scalp hairHeel vaak (80–99%)
Thin red part of the upper lipHeel vaak (80–99%)
Aplasia/Hypoplasia of the mandibleVaak (30–79%)
Thick eyebrowVaak (30–79%)
Abnormal dentitionSoms (5–29%)
Abnormality of the palateSoms (5–29%)
Abnormally small headSoms (5–29%)
Extra teethSoms (5–29%)
Thick nasal alaeSoms (5–29%)
Wide nasal bridgeSoms (5–29%)

Abnormality of the nervous system

TraitHoe vaak het voorkomt
Intellectual disabilityVaak (30–79%)
Somatic sensory dysfunctionSoms (5–29%)
VentriculomegalySoms (5–29%)
Cervical myelopathyZelden (1–4%)
Fluid-filled cyst in spinal cordZelden (1–4%)
Peripheral nerve compressionZelden (1–4%)
Pressure on spinal cordZelden (1–4%)
Tethered cordZelden (1–4%)

Constitutional symptom

TraitHoe vaak het voorkomt
PainVaak (30–79%)
Muscle acheSoms (5–29%)
Tendon painSoms (5–29%)
Chest painZelden (1–4%)

Abnormality of the ear

TraitHoe vaak het voorkomt
Ears rotated toward back of headHeel vaak (80–99%)
Prominent earHeel vaak (80–99%)
Conductive deafnessSoms (5–29%)

Abnormality of the genitourinary system

TraitHoe vaak het voorkomt
Frequent urinary tract infectionsSoms (5–29%)
Vesicoureteral refluxSoms (5–29%)
Urinary retentionZelden (1–4%)

Growth abnormality

TraitHoe vaak het voorkomt
Short statureHeel vaak (80–99%)
Growth delaySoms (5–29%)
Uneven or disproportionate growth of one body part compared to anotherSoms (5–29%)

Abnormality of the cardiovascular system

TraitHoe vaak het voorkomt
Abnormal cardiovascular system morphologySoms (5–29%)
PseudoaneurysmZelden (1–4%)

Abnormality of the digestive system

TraitHoe vaak het voorkomt
Intestinal obstructionZelden (1–4%)
Poor swallowingZelden (1–4%)

Abnormality of the respiratory system

TraitHoe vaak het voorkomt
Collapsed lungZelden (1–4%)
HemothoraxZelden (1–4%)

Abnormality of the integument

TraitHoe vaak het voorkomt
Loose redundant skinVaak (30–79%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

  • 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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