Conditions / Genetic
complex cortical dysplasia with other brain malformations 11
info · Genetic
A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene
A complex cortical dysplasia with other brain malformations characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects that has_material_basis_in homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32.
Signs and symptoms
- Global developmental delay
- Hypoplasia of the corpus callosum
- Ventriculomegaly
- Polymicrogyria
- Seizure
- Narrow forehead
- Long philtrum
- Brachydactyly
- Absence of stomach bubble on fetal sonography
- Smooth philtrum
Also known as: CDCBM11