Developmental And Epileptic Encephalopathy 75
Disease ID: disease_node_16177
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| Dbxref | MIM:618437 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE75, early infantile epileptic encephalopathy 75 |
| Doid Label | developmental and epileptic encephalopathy 75 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16177 |
| Doid Id | DOID_0112211 |
| Label | Developmental And Epileptic Encephalopathy 75 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)