Traits

Traits linked to BPNT2

3'(2'), 5'-bisphosphate nucleotidase 2

The Human Phenotype Ontology links 29 traits to BPNT2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Dislocated kneecap	Always
Capitate-hamate fusion	Often (30–79%)
Knee dislocation	Often (30–79%)
Short fingers or toes	Often (30–79%)
Shortened long bone of hand	Often (30–79%)
Hitchhiker thumb	Sometimes (5–29%)
Irregular end part of the long bone of hand	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Limb undergrowth	Sometimes (5–29%)
Limited elbow extension	Sometimes (5–29%)
Recurrent patellar dislocation	Sometimes (5–29%)
Hyperphalangy of the 4th finger	Not recorded
Short foot	Not recorded
Short toe	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Always
Little lower jaw	Always
Flat face	Often (30–79%)
High forehead	Often (30–79%)
Coronal craniosynostosis	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Narrow mouth	Not recorded
Short nose	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Intervertebral space narrowing	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Radial head subluxation	Sometimes (5–29%)
Short long bone	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	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 BPNT2 and how often each is seen. Find out more at hpo.jax.org.

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