Human genes for Sengers syndrome
Sengers syndrome [DOID:0080132]
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.
Synonyms: Sengers syndrome, DOID:0080132, Sengers disease, Sengers disorder, Sengers syndromes ...