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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:0002376 | Developmental regression |
| HP:0011443 | Abnormality of coordination |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0004305 | Involuntary movements |
| HP:0100710 | Impulsivity |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0002509 | Limb hypertonia |
| HP:0012444 | Brain atrophy |
