Traits

Traits linked to PITX3

paired like homeodomain 3

The Human Phenotype Ontology links 14 traits to PITX3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye at birth	Always
Posterior polar cataract	Always
Ocular anterior segment dysgenesis	Sometimes (5–29%)
Abnormally small eyeball	Not recorded
Blindness	Not recorded
Clouding of the lens of the eye	Not recorded
Cornea of eye less than 10mm in diameter	Not recorded
High eye pressure	Not recorded
Opacification of the corneal stroma	Not recorded
Peters anomaly	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Chorea	Not recorded
Diminished deep tendon reflex	Not recorded
Intellectual disability	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spasticity and rigidity of muscles	Not recorded

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 PITX3 and how often each is seen. Find out more at hpo.jax.org.

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