Conditions / Genetic
complex cortical dysplasia with other brain malformations 14B
info · Genetic
A complex cortical dysplasia with other brain malformations that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a r
A complex cortical dysplasia with other brain malformations that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21.
Signs and symptoms
- Perisylvian polymicrogyria
- Language impairment
- Seizure
- Intellectual disability
- Exotropia
- Motor delay
Also known as: bilateral perisylvian polymicrogyria