Disease-gene associations mined from literature

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 ...