complex cortical dysplasia with other brain malformations 1

A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3.

Signs and symptoms

• Strabismus
• Delayed speech and language development
• Intellectual disability
• Axial hypotonia
• Hypoplasia of the brainstem
• Hypoplasia of the corpus callosum
• Fusion of the caudate and putamen
• Thin corpus callosum
• Simplified gyral pattern
• Global developmental delay

Also known as: CDCBM1; cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation