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Bilateral Perisylvian Polymicrogyria

Disease ID: disease_node_16159

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DbxrefGARD:6011, MIM:615752, ORDO:98889
SubclassofDOID_0080918
Data SourceDOID
Doid Labelbilateral perisylvian polymicrogyria
Doid DescriptionA polymicrogyria 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.
Disease Node Iddisease_node_16159
Doid IdDOID_0080924
LabelBilateral Perisylvian Polymicrogyria