| Metadata | |
|---|---|
| ID | DOID:0080922 |
| PURL | http://purl.obolibrary.org/obo/DOID_0080922 Copy |
| Name | complex cortical dysplasia with other brain malformations 14A |
| 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. https://pubmed.ncbi.nlm.nih.gov/34863467/ |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
bilateral frontoparietal polymicrogyria [EXACT] CDCBM14A [EXACT] |
| Parent Relationships |
is_a autosomal recessive disease is_a complex cortical dysplasia with other brain malformations |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |