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developmental and epileptic encephalopathy 89
Summary
- Synonym
-
- DEE89
- early infantile epileptic encephalopathy 89
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112223
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001539 | Omphalocele |
| HP:0000175 | Cleft palate |
| HP:0001276 | Hypertonia |
| HP:0002187 | Intellectual disability, profound |
| HP:0000431 | Wide nasal bridge |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000343 | Long philtrum |
| HP:0002487 | Hyperkinetic movements |
| HP:0000256 | Macrocephaly |
| HP:0001347 | Hyperreflexia |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 1759 | DNM1 | dynamin 1 |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A |
| 781 | CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
| 8867 | SYNJ1 | synaptojanin 1 |
| 2571 | GAD1 | glutamate decarboxylase 1 |
