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Human Disease

bilateral perisylvian polymicrogyria

Term ID
DOID:0080924
Synonyms
Definition
A 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. https://pubmed.ncbi.nlm.nih.gov/24531968/
References
Ontology
Human Disease   ( DOID:0080924 )
Relationships
is a type of
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Genes Involved
Zebrafish Models