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Multiple mitochondrial dysfunctions syndrome 2
MONDO:0013675Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.
Also known as: BOLA3 deficiency, BOLA3 fatal multiple mitochondrial dysfunctions syndrome, fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3, multiple mitochondrial dysfunctions syndrome 2, multiple mitochondrial dysfunctions syndrome type 2, MMDS2, multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
50 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Hereditary disease
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Inherited lipid metabolism disorder
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Inborn mitochondrial metabolism disorder
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Inborn errors of metabolism
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Mitochondrial disease
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Human disease
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Developmental defect during embryogenesis
(7)
Inherited fatty acid metabolism disorder
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