DO_rare_slim has material basis in autosomal recessive disease multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome 2 disease_ontology ORDO:401874 A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. BOLA3 deficiency MIM:614299 DOID:0080134 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia autosomal recessive inheritance