complex cortical dysplasia with other brain malformations 4

info · Genetic

A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21.

Signs and symptoms

Global developmental delay
Pachygyria
Microcephaly
Spastic tetraplegia
Thick corpus callosum
Seizure
Agyria
Subcortical band heterotopia
Cataract
Thin corpus callosum

Also known as: CDCBM4