Traits

Traits linked to SH3BP2

SH3 domain binding protein 2

The Human Phenotype Ontology links 29 traits to SH3BP2, 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
Central giant cell lesion of the jaw	Always
Abnormality of the lower jaw bone	Very often (80–99%)
Broad jaw	Very often (80–99%)
Full cheeks	Very often (80–99%)
Jaw swelling	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Abnormality of dental shape	Often (30–79%)
Failure of development of more than six teeth	Often (30–79%)
Round face	Often (30–79%)
Lower eyelid retraction	Sometimes (5–29%)
Bad bite	Not recorded
Increased size of gum ridge	Not recorded
Multiple impacted teeth	Not recorded
Narrow palate	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Progressive loss of vision	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Damaged optic nerve	Not recorded
Decreased clarity of vision	Not recorded
Limited peripheral vision	Not recorded
Macular scar	Not recorded
Marcus Gunn pupil	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Submandibular lymph node enlargement	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bone cyst	Very often (80–99%)

Abnormality of the nervous system

Trait	How often it is seen
Obstructive sleep apnea	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Upper airway obstruction	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	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 SH3BP2 and how often each is seen. Find out more at hpo.jax.org.

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