FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term bilateral frontoparietal polymicrogyria ID (Ontology) DOID:0080922 (Human Disease)
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.
Also Known As "CDCBM14A" ; "complex cortical dysplasia with other brain malformations 14A"
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 Genes
 bilateral frontoparietal polymicrogyria       2
 for disease ribbon | bilateral frontoparietal polymicrogyria       2
 model of | bilateral frontoparietal polymicrogyria       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease________________________________
brain disease                                                  |
 |__complex cortical dysplasia with other brain malformations__|
                                                               bilateral frontoparietal polymicrogyria  2 rec.
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Is a autosomal recessive disease
complex cortical dysplasia with other brain malformations
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Synonyms
  • "CDCBM14A" EXACT OMO:0003012
    "complex cortical dysplasia with other brain malformations 14A" EXACT
Secondary IDs
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GARD:10784
MIM:606854
NCI:C148367