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Mitochondrial DNA depletion syndrome
- SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Affected infants typically ...
- SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Signs and symptoms typically ...
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs ...
- TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).The ...
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (RRM2B-MDS) is a severe condition that begins in infancy and affects multiple ...
- ... FBXL4 deficiency FBXL4-related early onset mitochondrial encephalopathy Mitochondrial DNA depletion syndrome 13, encephalomyopathic type MTDPS13 Genetic Testing Registry: Mitochondrial ...
- ... symptoms of the condition. DGUOK deficiency DGUOK-related mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome 3 (hepatocerebral ...
- Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Muscle Disorders/Specifics ... Muscle Disorders
- ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion syndrome ...
- ... have been found to cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome, a condition characterized by liver disease and neurological ...