Term Name: | bilateral frontoparietal polymicrogyria |
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Synonyms: | CDCBM14A, complex cortical dysplasia with other brain malformations 14A |
Definition: | A polymicrogyria 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 ) |