multiple mitochondrial dysfunctions syndrome 2 (DOID:0080134)
Alliance: disease page
Synonyms: BOLA3 deficiency; multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
Alt IDs: OMIM:614299, ORDO:401874
Definition: 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.