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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

TraitHvor ofte det ses
Full lipsOfte (30–79 %)
High frontal hairlineOfte (30–79 %)
Abnormally small headNogle gange (5–29 %)
Big calvariaNogle gange (5–29 %)
Broad foreheadNogle gange (5–29 %)
Bulbous noseNogle gange (5–29 %)
Cleft lipNogle gange (5–29 %)
Cleft palateNogle gange (5–29 %)
Deep philtrumNogle gange (5–29 %)
Depressed nasal bridgeNogle gange (5–29 %)
Downward slanting of the opening between the eyelidsNogle gange (5–29 %)
Exaggerated cupid's bowNogle gange (5–29 %)
Eye foldsNogle gange (5–29 %)
Frontal bossingNogle gange (5–29 %)
Midface retrusionNogle gange (5–29 %)
MonobrowNogle gange (5–29 %)
Pointed chinNogle gange (5–29 %)
Prominent browNogle gange (5–29 %)
Prominent foreheadNogle gange (5–29 %)
Receding chinNogle gange (5–29 %)
Short philtrumNogle gange (5–29 %)
Smooth philtrumNogle gange (5–29 %)
Sparse eyebrowNogle gange (5–29 %)
Thick eyebrowNogle gange (5–29 %)
Triangular faceNogle gange (5–29 %)
Upward slanting of the opening between the eyelidsNogle gange (5–29 %)
Wide nasal bridgeNogle gange (5–29 %)

Abnormality of the nervous system

TraitHvor ofte det ses
Global developmental delayAltid
Autism spectrum disorderOfte (30–79 %)
Intellectual disabilityOfte (30–79 %)
Abnormal gaitNogle gange (5–29 %)
Aggressive behaviorNogle gange (5–29 %)
Attention deficitNogle gange (5–29 %)
EpilepsyNogle gange (5–29 %)
Obsessive compulsive behaviorNogle gange (5–29 %)
PsychosisNogle gange (5–29 %)

Abnormality of limbs

TraitHvor ofte det ses
Dropped archesNogle gange (5–29 %)
Joint contracture of the 5th fingerNogle gange (5–29 %)
Prominent fingertip padsNogle gange (5–29 %)
Single transverse palmar creaseNogle gange (5–29 %)
Webbed 2nd and 3rd toesNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Deeply set eyeOfte (30–79 %)
Abnormally small eyeballNogle gange (5–29 %)
Drooping upper eyelidNogle gange (5–29 %)
Wide-set eyesNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle toneOfte (30–79 %)
Double-JointedNogle gange (5–29 %)
ScoliosisNogle gange (5–29 %)

Abnormality of the breast

TraitHvor ofte det ses
Accessory nippleNogle gange (5–29 %)
Inverted nipplesNogle gange (5–29 %)

Abnormality of the ear

TraitHvor ofte det ses
Low-set earsNogle gange (5–29 %)
Prominent earNogle gange (5–29 %)

Abnormality of the integument

TraitHvor ofte det ses
Darkened and thickened skinNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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