Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Preferred Label : Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations;

NCIt synonyms : MCCCHCM;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the MAST1 gene, encoding microtubule-associated serine/threonine-protein kinase 1. It is characterized by enlargement of the corpus callosum, cerebellar hypoplasia, and cortical malformations.;

Details

Origin ID

C212888;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- MAST1 Gene [NCIt concept]

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