bilateral frontoparietal polymicrogyria

Term ID

DOID:0080922

Synonyms

• CDCBM14A
• complex cortical dysplasia with other brain malformations 14A

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/

References

• GARD:10784
• MIM:606854
• NCI:C148367

Ontology

Human Disease   ( DOID:0080922 )