has material basis in autosomal recessive disease 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. disease_ontology DEE29 DOID:0080451 MIM:616339 early infantile epileptic encephalopathy 29 developmental and epileptic encephalopathy autosomal recessive inheritance