complex cortical dysplasia with other brain malformations 10

A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter

A complex cortical dysplasia with other brain malformations characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter that has_material_basis_in homozygous or compound heterozygous mutation in the APC2 gene on chromosome 19p13.

Signs and symptoms

• Delayed speech and language development
• Delayed gross motor development
• Delayed fine motor development
• Delayed early-childhood social milestone development
• Severe intellectual disability
• Lissencephaly
• Ventriculomegaly
• Hypoplasia of the corpus callosum
• Generalized-onset seizure
• Myoclonic seizure

Also known as: CDCBM10