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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:0007024 | Pseudobulbar paralysis |
| HP:0002307 | Drooling |
| HP:0007301 | Oromotor apraxia |
| HP:0002392 | EEG with polyspike wave complexes |
| HP:0002835 | Aspiration |
| HP:0011157 | Focal sensory seizure |
| HP:0012015 | EEG with frontal focal spikes |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0012469 | Infantile spasms |
| HP:0011968 | Feeding difficulties |
