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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002133 | Status epilepticus |
| HP:0002317 | Unsteady gait |
| HP:0002355 | Difficulty walking |
| HP:0002376 | Developmental regression |
| HP:0002421 | Poor head control |
| HP:0002509 | Limb hypertonia |
| HP:0002521 | Hypsarrhythmia |
| HP:0004305 | Involuntary movements |
| HP:0004322 | Short stature |
| HP:0007018 | Attention deficit hyperactivity disorder |
