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bilateral parasagittal parieto-occipital polymicrogyria
Summary
- Synonym
-
- bilateral temporooccipital polymicrogyria
- Definition
- A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21.
- Super Class
- autosomal recessive disease polymicrogyria
External Links
- Disease Ontology
- DOID:0080923
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003593 | Infantile onset |
| HP:0002133 | Status epilepticus |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0002119 | Ventriculomegaly |
