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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:0000252 | Microcephaly |
| HP:0000348 | High forehead |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000504 | Abnormality of vision |
| HP:0000508 | Ptosis |
| HP:0000546 | Retinal degeneration |
| HP:0000639 | Nystagmus |
| HP:0000648 | Optic atrophy |
| HP:0000668 | Hypodontia |
| HP:0000708 | Atypical behavior |
