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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:0004322 | Short stature |
| HP:0011443 | Abnormality of coordination |
| HP:0011968 | Feeding difficulties |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0012444 | Brain atrophy |
| HP:0012447 | Abnormal myelination |
| HP:0100710 | Impulsivity |
| HP:0100660 | Dyskinesia |
