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developmental and epileptic encephalopathy 87
Summary
- Synonym
-
- DEE87
- early infantile epileptic encephalopathy 87
- Definition
- A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112221
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002317 | Unsteady gait |
| HP:0001336 | Myoclonus |
| HP:0001251 | Ataxia |
| HP:0001558 | Decreased fetal movement |
| HP:0001268 | Mental deterioration |
| HP:0002133 | Status epilepticus |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002355 | Difficulty walking |
| HP:0001290 | Generalized hypotonia |
