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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:0000007 | Autosomal recessive inheritance |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0007021 | Pain insensitivity |
| HP:0000369 | Low-set ears |
| HP:0001252 | Hypotonia |
| HP:0100704 | Cerebral visual impairment |
| HP:0002187 | Intellectual disability, profound |
| HP:0010804 | Tented upper lip vermilion |
| HP:0003593 | Infantile onset |
| HP:0001344 | Absent speech |
