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mitochondrial DNA depletion syndrome, encephalomyopathic form

Disease Summary
Associated Targets (5)
Tbio

3

Tclin

1

Tchem

1


Explore Associated Targets
Mondo Description Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
Mondo Term and Equivalent IDs
MONDO:0016796:  mitochondrial DNA depletion syndrome, encephalomyopathic form
Orphanet:254803: 
UMLS:CN202052: 
UMLS:CN230130: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found