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Metadata
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

GARD:10784

MIM:606854

NCI:C148367

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

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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