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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:0000639 | Nystagmus |
| HP:0001310 | Dysmetria |
| HP:0002510 | Spastic tetraplegia |
| HP:0002385 | Paraparesis |
| HP:0007033 | Cerebellar dysplasia |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0005684 | Distal arthrogryposis |
| HP:0002463 | Language impairment |
| HP:0002104 | Apnea |
| HP:0002509 | Limb hypertonia |
