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