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Human Disease

Sengers syndrome

Term ID
DOID:0080132
Synonyms
  • mitochondrial DNA depletion syndrome 10
  • mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)
Definition
A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. (4)
References
Ontology
Human Disease   ( DOID:0080132 )
Relationships
is a type of
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Genes Involved
Zebrafish Models