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

Trait	How often it is seen
Full lips	Often (30–79%)
High frontal hairline	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Bulbous nose	Sometimes (5–29%)
Cleft lip	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Deep philtrum	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Exaggerated cupid's bow	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Prominent brow	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Triangular face	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Autism spectrum disorder	Often (30–79%)
Intellectual disability	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Obsessive compulsive behavior	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Sometimes (5–29%)
Joint contracture of the 5th finger	Sometimes (5–29%)
Prominent fingertip pads	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Webbed 2nd and 3rd toes	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Sometimes (5–29%)
Inverted nipples	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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