complex cortical dysplasia with other brain malformations 5

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 2A class IIa (TUBB2A) gene on chromosome 6p25.

Signs and symptoms

Seizure
Severe global developmental delay
Cerebellar vermis hypoplasia
Hypsarrhythmia
Absent speech
Enlarged posterior fossa
Hypoplasia of the brainstem
Hypoplasia of the corpus callosum
Hypotonia
Generalized hypotonia

Also known as: CDCBM5