Traits

Traits linked to TMEM222

transmembrane protein 222

The Human Phenotype Ontology links 22 traits to TMEM222, 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
Delayed ability to walk	Always
Delayed speech and language development	Always
Global developmental delay	Always
Motor delay	Always
Aggressive behavior	Often (30–79%)
Epilepsy	Often (30–79%)
Wide based walk	Often (30–79%)
Autism spectrum disorder	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Periventricular white matter hyperintensities	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Esodeviation	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Spastic tetraparesis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Elbow flexion contracture	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Small nail	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 TMEM222 and how often each is seen. Find out more at hpo.jax.org.

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