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Definition

An autosomal recessive disorder characterized by neurodevelopmental delay apparent from early infancy, acquired microcephaly, hypotonic cerebral palsy, inability to ambulate or speak, and intractable seizures. Brain imaging shows pachygyria with severe cortical gray matter thickening, paucity of gyri without an obvious posterior-anterior gradient or focal dysplasias, hypogenesis of the corpus callosum, and cerebellar hypoplasia.

Acronym

CDCBM9

Keywords

Lissencephaly

 
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