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MIRAGE
developmental and epileptic encephalopathy 110
Summary
- Synonym
-
- DEE110
- early infantile epileptic encephalopathy 110
- Definition
- A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070395
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54289 | Voltage-dependent calcium channel subunit alpha-2/delta-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000341 | Narrow forehead |
| HP:0003763 | Bruxism |
| HP:0200055 | Small hand |
| HP:0002072 | Chorea |
| HP:0000218 | High palate |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0008936 | Axial hypotonia |
| HP:0000400 | Macrotia |
| HP:0012736 | Profound global developmental delay |
| HP:0002870 | Obstructive sleep apnea |
