Mitochondrial DNA depletion syndrome 13
MONDO:0014198Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.
Also known as: FBXL4 mitochondrial DNA depletion syndrome, mitochondrial DNA depletion syndrome caused by mutation in FBXL4, mitochondrial DNA depletion syndrome type 13, mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, BXL4-related early-onset mitochondrial encephalopathy, FBXL4 deficiency, FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, MTDPS13
40 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
(215)
Hereditary disease
(172)
Inborn mitochondrial metabolism disorder
(57)
Inborn errors of metabolism
(42)
Mitochondrial disease
(39)
Human disease
(14)
Developmental defect during embryogenesis
(7)
Mitochondrial DNA depletion syndrome
(3)
Mitochondrial oxidative phosphorylation disorder
(3)