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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:0011297 | Abnormal digit morphology |
| HP:0000951 | Abnormality of the skin |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0000174 | Abnormal palate morphology |
| HP:0001252 | Hypotonia |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0000486 | Strabismus |
| HP:0010862 | Delayed fine motor development |
| HP:0000750 | Delayed speech and language development |
| HP:0001999 | Abnormal facial shape |
