complex cortical dysplasia with other brain malformations 9

info · Genetic

A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12.

Signs and symptoms

Inability to walk
Seizure
Delayed fine motor development
Severe intellectual disability
Pachygyria
EEG abnormality
Cerebellar hypoplasia
Hypoplasia of the corpus callosum
Delayed gross motor development
Severe global developmental delay

Also known as: CDCBM9