Traits

Traits linked to MAST1

microtubule associated serine/threonine kinase 1

The Human Phenotype Ontology links 17 traits to MAST1, 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
Intellectual disability	Always
Thick corpus callosum	Always
Ventriculomegaly	Always
Absent speech development	Very often (80–99%)
Small cerebellum	Very often (80–99%)
Cerebellar vermis hypoplasia	Often (30–79%)
Epilepsy	Often (30–79%)
Inability to walk	Often (30–79%)
Simplified gyral pattern	Often (30–79%)
Small brainstem	Often (30–79%)
Unsteady walk	Often (30–79%)
Instability or lack of coordination of central trunk muscles	Sometimes (5–29%)
Periventricular heterotopia	Sometimes (5–29%)
Global developmental delay	Not recorded

Abnormality of the eye

Trait	How often it is seen
Oculomotor apraxia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	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 MAST1 and how often each is seen. Find out more at hpo.jax.org.

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