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Traits
Traits linked to JARID2
jumonji and AT-rich interaction domain containing 2
The Human Phenotype Ontology links 53 traits to JARID2, by body system: features seen in people with one of the gene's rare conditions.
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PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of head or neck
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Full lips | Dažnai (30–79%) |
| High frontal hairline | Dažnai (30–79%) |
| Abnormally small head | Kartais (5–29%) |
| Big calvaria | Kartais (5–29%) |
| Broad forehead | Kartais (5–29%) |
| Bulbous nose | Kartais (5–29%) |
| Cleft lip | Kartais (5–29%) |
| Cleft palate | Kartais (5–29%) |
| Deep philtrum | Kartais (5–29%) |
| Depressed nasal bridge | Kartais (5–29%) |
| Downward slanting of the opening between the eyelids | Kartais (5–29%) |
| Exaggerated cupid's bow | Kartais (5–29%) |
| Eye folds | Kartais (5–29%) |
| Frontal bossing | Kartais (5–29%) |
| Midface retrusion | Kartais (5–29%) |
| Monobrow | Kartais (5–29%) |
| Pointed chin | Kartais (5–29%) |
| Prominent brow | Kartais (5–29%) |
| Prominent forehead | Kartais (5–29%) |
| Receding chin | Kartais (5–29%) |
| Short philtrum | Kartais (5–29%) |
| Smooth philtrum | Kartais (5–29%) |
| Sparse eyebrow | Kartais (5–29%) |
| Thick eyebrow | Kartais (5–29%) |
| Triangular face | Kartais (5–29%) |
| Upward slanting of the opening between the eyelids | Kartais (5–29%) |
| Wide nasal bridge | Kartais (5–29%) |
Abnormality of the nervous system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Global developmental delay | Visada |
| Autism spectrum disorder | Dažnai (30–79%) |
| Intellectual disability | Dažnai (30–79%) |
| Abnormal gait | Kartais (5–29%) |
| Aggressive behavior | Kartais (5–29%) |
| Attention deficit | Kartais (5–29%) |
| Epilepsy | Kartais (5–29%) |
| Obsessive compulsive behavior | Kartais (5–29%) |
| Psychosis | Kartais (5–29%) |
Abnormality of limbs
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Dropped arches | Kartais (5–29%) |
| Joint contracture of the 5th finger | Kartais (5–29%) |
| Prominent fingertip pads | Kartais (5–29%) |
| Single transverse palmar crease | Kartais (5–29%) |
| Webbed 2nd and 3rd toes | Kartais (5–29%) |
Abnormality of the eye
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Deeply set eye | Dažnai (30–79%) |
| Abnormally small eyeball | Kartais (5–29%) |
| Drooping upper eyelid | Kartais (5–29%) |
| Wide-set eyes | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Low muscle tone | Dažnai (30–79%) |
| Double-Jointed | Kartais (5–29%) |
| Scoliosis | Kartais (5–29%) |
Abnormality of the breast
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Accessory nipple | Kartais (5–29%) |
| Inverted nipples | Kartais (5–29%) |
Abnormality of the ear
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Low-set ears | Kartais (5–29%) |
| Prominent ear | Kartais (5–29%) |
Abnormality of the integument
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Darkened and thickened skin | Kartais (5–29%) |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to JARID2 and how often each is seen. Find out more at hpo.jax.org.
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