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bilateral perisylvian polymicrogyria
Summary
- Definition
- A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21.
- Super Class
- polymicrogyria
External Links
- Disease Ontology
- DOID:0080924
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001347 | Hyperreflexia |
| HP:0000453 | Choanal atresia |
| HP:0002015 | Dysphagia |
| HP:0001263 | Global developmental delay |
| HP:0000347 | Micrognathia |
| HP:0001371 | Flexion contracture |
| HP:0001257 | Spasticity |
| HP:0002061 | Lower limb spasticity |
| HP:0000750 | Delayed speech and language development |
