Conditions / Genetic
complex cortical dysplasia with other brain malformations 7
info · Genetic
A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene o
A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25.
Signs and symptoms
- Hypoplasia of the brainstem
- Motor delay
- Intellectual disability
- Microcephaly
- Global developmental delay
- Polymicrogyria
- Tetraparesis
- Seizure
- Unilateral polymicrogyria
- Specific learning disability
Also known as: CDCBM7; polymicrogyria due to TUBB2B mutation