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Summary Literature (0)
DOID:0080922 - bilateral frontoparietal polymicrogyria

Disease Ontology 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.

Synonyms: CDCBM14A, complex cortical dysplasia with other brain malformations 14A

Xenbase Genes : adgrg1


MIM:
MIM:606854 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A (BILATERAL FRONTOPARIETAL); CDCBM14A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal recessive disease (is_a), complex cortical dysplasia with other brain malformations (is_a), polymicrogyria (is_a)