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mitochondrial DNA depletion syndrome 4b

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


Uniprot Description An autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness.
Mondo Term and Equivalent IDs
MONDO:0013350:  mitochondrial DNA depletion syndrome 4b
UMLS:C3150914: