| Metadata | |
|---|---|
| ID | DOID:0080924 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080924 Copy |
| Name | complex cortical dysplasia with other brain malformations 14B |
| Definition | 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. https://pubmed.ncbi.nlm.nih.gov/24531968/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
bilateral perisylvian polymicrogyria [EXACT] |
| Parent Relationships |
is_a complex cortical dysplasia with other brain malformations |