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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:0100852 | Abnormal fear-induced behavior |
| HP:0001263 | Global developmental delay |
| HP:0000708 | Atypical behavior |
| HP:0007024 | Pseudobulbar paralysis |
| HP:0000256 | Macrocephaly |
| HP:0002194 | Delayed gross motor development |
| HP:0001249 | Intellectual disability |
| HP:0002126 | Polymicrogyria |
| HP:0003577 | Congenital onset |
| HP:0003621 | Juvenile onset |
