Traits

Traits linked to IGBP1

immunoglobulin binding protein 1

The Human Phenotype Ontology links 35 traits to IGBP1, 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
Big calvaria	Always
Broad forehead	Always
Broad neck	Always
Downward slanting of the opening between the eyelids	Always
High forehead	Always
High palate	Always
Receding chin	Always
Short neck	Always
Bifid uvula	Often (30–79%)
Blockage of the rear opening of the nasal cavity	Often (30–79%)
Cleft palate	Often (30–79%)
Prominent nasal bridge	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Always
Low-set ears	Always
Abnormally shaped ears	Very often (80–99%)
Hearing impairment	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)
Lop ear	Often (30–79%)
Mixed hearing impairment	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Cat eye	Often (30–79%)
Optic disc coloboma	Often (30–79%)
Visual impairment	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Always
Thoracolumbar scoliosis	Always
Scoliosis	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Always
Recurrent aspiration pneumonia	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Agenesis of corpus callosum	Always
Intellectual disability	Always

Abnormality of the digestive system

Trait	How often it is seen
Chronic constipation	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Always

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 IGBP1 and how often each is seen. Find out more at hpo.jax.org.

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