Traits

Traits linked to MTSS2

MTSS I-BAR domain containing 2

The Human Phenotype Ontology links 14 traits to MTSS2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Hypoplasia of the fovea	Sometimes (5–29%)
Iris cyst	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Always
Narrow forehead	Always
Upward slanting of the opening between the eyelids	Always
Abnormally small head	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability, mild	Always
Autism spectrum disorder	Often (30–79%)
Epilepsy	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)

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 MTSS2 and how often each is seen. Find out more at hpo.jax.org.

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