Traits

Traits linked to PLEKHG2

pleckstrin homology and RhoGEF domain containing G2

The Human Phenotype Ontology links 11 traits to PLEKHG2, 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
Global developmental delay	Always
Dystonia	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Diffuse white matter abnormalities	Not recorded
Intellectual disability, severe	Not recorded
Leukodystrophy	Not recorded
Profound global developmental delay	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Development of small head that was not present at birth	Not recorded

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	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 PLEKHG2 and how often each is seen. Find out more at hpo.jax.org.

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