complex cortical dysplasia with other brain malformations 3

info · Genetic

A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12.

Signs and symptoms

Microcephaly
Hypoplasia of the corpus callosum
Seizure
Global developmental delay
Thin corpus callosum
Pachygyria
Spastic tetraplegia
Subcortical band heterotopia
Gray matter heterotopia
Agyria

Also known as: CDCBM3