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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.

Abnormality of head or neck

TraitCât de frecvent apare
Full lipsDes (30–79%)
High frontal hairlineDes (30–79%)
Abnormally small headUneori (5–29%)
Big calvariaUneori (5–29%)
Broad foreheadUneori (5–29%)
Bulbous noseUneori (5–29%)
Cleft lipUneori (5–29%)
Cleft palateUneori (5–29%)
Deep philtrumUneori (5–29%)
Depressed nasal bridgeUneori (5–29%)
Downward slanting of the opening between the eyelidsUneori (5–29%)
Exaggerated cupid's bowUneori (5–29%)
Eye foldsUneori (5–29%)
Frontal bossingUneori (5–29%)
Midface retrusionUneori (5–29%)
MonobrowUneori (5–29%)
Pointed chinUneori (5–29%)
Prominent browUneori (5–29%)
Prominent foreheadUneori (5–29%)
Receding chinUneori (5–29%)
Short philtrumUneori (5–29%)
Smooth philtrumUneori (5–29%)
Sparse eyebrowUneori (5–29%)
Thick eyebrowUneori (5–29%)
Triangular faceUneori (5–29%)
Upward slanting of the opening between the eyelidsUneori (5–29%)
Wide nasal bridgeUneori (5–29%)

Abnormality of the nervous system

TraitCât de frecvent apare
Global developmental delayÎntotdeauna
Autism spectrum disorderDes (30–79%)
Intellectual disabilityDes (30–79%)
Abnormal gaitUneori (5–29%)
Aggressive behaviorUneori (5–29%)
Attention deficitUneori (5–29%)
EpilepsyUneori (5–29%)
Obsessive compulsive behaviorUneori (5–29%)
PsychosisUneori (5–29%)

Abnormality of limbs

TraitCât de frecvent apare
Dropped archesUneori (5–29%)
Joint contracture of the 5th fingerUneori (5–29%)
Prominent fingertip padsUneori (5–29%)
Single transverse palmar creaseUneori (5–29%)
Webbed 2nd and 3rd toesUneori (5–29%)

Abnormality of the eye

TraitCât de frecvent apare
Deeply set eyeDes (30–79%)
Abnormally small eyeballUneori (5–29%)
Drooping upper eyelidUneori (5–29%)
Wide-set eyesUneori (5–29%)

Abnormality of the musculoskeletal system

TraitCât de frecvent apare
Low muscle toneDes (30–79%)
Double-JointedUneori (5–29%)
ScoliosisUneori (5–29%)

Abnormality of the breast

TraitCât de frecvent apare
Accessory nippleUneori (5–29%)
Inverted nipplesUneori (5–29%)

Abnormality of the ear

TraitCât de frecvent apare
Low-set earsUneori (5–29%)
Prominent earUneori (5–29%)

Abnormality of the integument

TraitCât de frecvent apare
Darkened and thickened skinUneori (5–29%)

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 JARID2 and how often each is seen. Find out more at hpo.jax.org.

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