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encephalopathy, recurrent, of childhood
MONDO:0007539
acute intermittent porphyria
MONDO:0008294
encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
MONDO:0009164
Bonnemann-Meinecke-Reich syndrome
MONDO:0009167
severe neonatal-onset encephalopathy with microcephaly
MONDO:0010397
ethylmalonic encephalopathy
MONDO:0011229