has material basis in existence starts during autosomal recessive disease mitochondrial complex V (ATP synthase) deficiency nuclear type 4 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MIM:615228 DOID:0070462 disease_ontology A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. MC5DN4B MIM:615228 autosomal recessive inheritance Congenital onset