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MIRAGE
developmental and epileptic encephalopathy 109
Summary
- Synonym
-
- DEE109
- Definition
- A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070378
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UM11 | Fizzy-related protein homolog |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002133 | Status epilepticus |
| HP:0002355 | Difficulty walking |
| HP:0002317 | Unsteady gait |
| HP:0002376 | Developmental regression |
| HP:0002521 | Hypsarrhythmia |
| HP:0002421 | Poor head control |
| HP:0002509 | Limb hypertonia |
| HP:0004305 | Involuntary movements |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0010844 | EEG with multifocal slow activity |
