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MIRAGE
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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92562 | Polyphosphoinositide phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001345 | Psychotic mentation |
| HP:0000718 | Aggressive behavior |
| HP:0008765 | Auditory hallucination |
| HP:0000365 | Hearing impairment |
| HP:0002367 | Visual hallucination |
| HP:0001250 | Seizure |
| HP:0000252 | Microcephaly |
| HP:0001257 | Spasticity |
| HP:0002539 | Cortical dysplasia |
| HP:0000505 | Visual impairment |
