Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene.

Uniprot Description A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination.

Disease Ontology Description An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AARS gene on chromosome 16q22.