| 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 ) |