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developmental and epileptic encephalopathy 92
Summary
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080471
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001290 | Generalized hypotonia |
| HP:0002059 | Cerebral atrophy |
| HP:0001263 | Global developmental delay |
| HP:0001337 | Tremor |
| HP:0011443 | Abnormality of coordination |
| HP:0004305 | Involuntary movements |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0002509 | Limb hypertonia |
| HP:0012444 | Brain atrophy |
| HP:0100710 | Impulsivity |
