complex cortical dysplasia with other brain malformations 6

info · Genetic

A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21.

Signs and symptoms

Delayed speech and language development
Global developmental delay
Dysgenesis of the basal ganglia
Primary microcephaly
Hypoplasia of the brainstem
Partial agenesis of the corpus callosum
Cerebellar vermis hypoplasia
Subcortical band heterotopia
Dilated fourth ventricle
Ataxia

Also known as: CDCBM56