Term Name: complex cortical dysplasia with other brain malformations 14A
Synonyms: bilateral frontoparietal polymicrogyria, CDCBM14A
Definition: A complex cortical dysplasia with other brain malformations that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.
Ontology: Human Disease [DOID:0080922]   ( DOID:0080922 )

Relationships
is a type of: autosomal recessive disease complex cortical dysplasia with other brain malformations