Traits

Traits linked to TBX3

T-box transcription factor 3

The Human Phenotype Ontology links 70 traits to TBX3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Abnormalities of the fingers	Very often (80–99%)
Absence/underdevelopment of inner forearm bone	Very often (80–99%)
Abnormality of the wrist	Often (30–79%)
Absent 3rd long bone of hand	Often (30–79%)
Absent 4th long bone of hand	Often (30–79%)
Absent 5th long bone of hand	Often (30–79%)
Absent little finger	Often (30–79%)
Absent middle finger	Often (30–79%)
Absent ring finger	Often (30–79%)
Aplasia of the ulna	Often (30–79%)
Elbow flexion contracture	Often (30–79%)
Short 5th finger	Often (30–79%)
Abnormal humerus morphology	Sometimes (5–29%)
Abnormal morphology of the radius	Sometimes (5–29%)
Abnormal shape of long bones of hand	Sometimes (5–29%)
Absent hand	Sometimes (5–29%)
Aplasia of the pectoralis major muscle	Sometimes (5–29%)
Extra little finger	Sometimes (5–29%)
Permanent flexion of the finger	Sometimes (5–29%)
Short outermost finger bone	Sometimes (5–29%)
Deformed radius	Not recorded
Missing outer large bone of forearm	Not recorded
Short 4th toe	Not recorded
Short humerus	Not recorded
Short little toe	Not recorded
Underdeveloped inner large forearm bone	Not recorded
Underdeveloped outer large forearm bone	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Always
Abnormality of the uterus	Often (30–79%)
Decreased fertility	Often (30–79%)
Heart shaped uterus	Often (30–79%)
Smaller than typical growth of scrotum	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Undescended testes	Often (30–79%)
Small kidneys	Sometimes (5–29%)
Imperforate hymen	Not recorded
Scrotum surrounds penis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abnormal anus position	Sometimes (5–29%)
Absent anus	Sometimes (5–29%)
Hernia of the abdominal wall	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)
Inguinal hernia	Not recorded
Narrowing of anal opening	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Stiff elbow	Often (30–79%)
Abnormal collarbone	Sometimes (5–29%)
High shoulder blade	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Short collarbone	Not recorded
Small shoulder blade	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Very often (80–99%)
Absent axillary hair	Very often (80–99%)
Underdeveloped toenails	Sometimes (5–29%)
Axillary apocrine gland hypoplasia	Not recorded
Limited armpit hair	Not recorded

Abnormality of the breast

Trait	How often it is seen
Small nipples	Always
Underdeveloped breasts	Always
Absent breast	Sometimes (5–29%)
Inverted nipples	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Often (30–79%)
Ectopic posterior pituitary	Not recorded
Underdeveloped pituitary gland	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Failure of development of between one and six teeth	Sometimes (5–29%)
Limited hair on end of eyebrow	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Softening of voice box tissue	Sometimes (5–29%)
Subglottic stenosis	Not recorded

Growth abnormality

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

Laboratory abnormality

Trait	How often it is seen
Abnormality of temperature regulation	Very often (80–99%)

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 TBX3 and how often each is seen. Find out more at hpo.jax.org.

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