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pyruvate dehydrogenase E3 deficiency
MONDO:0009529
spastic ataxia 2
MONDO:0012651
lipoic acid synthetase deficiency
MONDO:0013762
lipoyl transferase 1 deficiency
MONDO:0014576
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
MONDO:0015003
fatal multiple mitochondrial dysfunctions syndrome
MONDO:0017338