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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:0002059 | Cerebral atrophy |
| HP:0001263 | Global developmental delay |
| HP:0001337 | Tremor |
| HP:0010844 | EEG with multifocal slow activity |
| HP:0002521 | Hypsarrhythmia |
| HP:0012447 | Abnormal myelination |
| HP:0002421 | Poor head control |
| HP:0011968 | Feeding difficulties |
| HP:0100660 | Dyskinesia |
| HP:0004322 | Short stature |
