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GTR Home > Conditions/Phenotypes > Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

Summary

Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities on brain imaging. Affected individuals have enlargement of the corpus callosum, enlarged ventricles, and cerebellar and brainstem hypoplasia. Other features may include lack of speech development, gait instability, and seizures. Some patients with MAST1 mutations may have impaired intellectual development and/or autism spectrum disorder without significant findings on brain imaging (summary by Tripathy et al., 2018). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCCCHCM, SAST, MAST1
    Summary: microtubule associated serine/threonine kinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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