Traits

Traits linked to TBX22

T-box transcription factor 22

The Human Phenotype Ontology links 28 traits to TBX22, 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
Cleft palate	Very often (80–99%)
Flat face	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Abnormality of the palate	Often (30–79%)
Dimple chin	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Bifid uvula	Not recorded
Tongue tied	Not recorded

Abnormality of limbs

Trait	How often it is seen
Finger bends toward pinky	Often (30–79%)
Fused forearm bones	Often (30–79%)
Fused toes	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Short toe	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Very often (80–99%)
Sensorineural hearing impairment	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Hearing impairment	Not recorded
Prominent ear	Not recorded

Abnormality of the eye

Trait	How often it is seen
Birth defect that causes a hole in the innermost layer at the back of the eye	Often (30–79%)
Cat eye	Often (30–79%)
Notched pupil	Often (30–79%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Coronal hypospadias	Very often (80–99%)
Hypospadias	Very often (80–99%)
Abnormal localisation of kidneys	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)

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 TBX22 and how often each is seen. Find out more at hpo.jax.org.

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