Term Name: Sengers syndrome
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.
Ontology: Human Disease [DOID:0080132]   ( DOID:0080132 )

Relationships
is a type of: autosomal recessive disease mitochondrial DNA depletion syndrome