Traits

Traits linked to TMX2

thioredoxin related transmembrane protein 2

The Human Phenotype Ontology links 17 traits to TMX2, 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
Bilateral tonic-clonic seizure with generalized onset	Always
Fewer or absent grooves in brain	Always
Global developmental delay	Always
Increased reflexes	Always
Intellectual disability, severe	Always
Underdevelopment of part of brain called corpus callosum	Always
Ventriculomegaly	Always
Epilepsy	Very often (80–99%)
Degeneration of cerebellum	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
More grooves in brain	Often (30–79%)
Small brainstem	Often (30–79%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Cerebral white matter hypoplasia	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic tetraplegia	Always
Spasticity and rigidity of muscles	Always

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)

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 TMX2 and how often each is seen. Find out more at hpo.jax.org.

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