1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080451 | developmental and epileptic encephalopathy 29 | 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. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050701 | electroclinical syndrome | An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. |
