Developmental And Epileptic Encephalopathy 29
Disease ID: disease_node_16212
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616339 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE29, early infantile epileptic encephalopathy 29 |
| Doid Label | developmental and epileptic encephalopathy 29 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16212 |
| Doid Id | DOID_0080451 |
| Label | Developmental And Epileptic Encephalopathy 29 |
- 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)