Traits

Traits linked to GPSM2

G protein signaling modulator 2

The Human Phenotype Ontology links 20 traits to GPSM2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Gray matter heterotopia	Always
More grooves in brain	Always
Partial agenesis of the corpus callosum	Always
Ventriculomegaly	Always
Cerebellar dysplasia	Very often (80–99%)
Colpocephaly	Very often (80–99%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Very often (80–99%)
Cortical dysplasia	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Motor delay	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Slit-like lateral ventricle	Sometimes (5–29%)
Dysplastic corpus callosum	Not recorded
Small cerebellum	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of the ear

Trait	How often it is seen
Congenital sensorineural hearing impairment	Always
Severe sensorineural hearing impairment	Always
Profound sensorineural hearing impairment	Very often (80–99%)

Abnormality of head or neck

Trait	How often it is seen
Big foramen magnum	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 GPSM2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test