GTR Home > Conditions/Phenotypes > Sengers syndrome

Summary

Sengers syndrome is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy (summary by Mayr et al., 2012). Skeletal muscle biopsies of 2 affected individuals showed severe mtDNA depletion (Calvo et al., 2012). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CATC5, CTRCT38, MTDPS10, MULK, AGK
    Summary: acylglycerol kinase

Clinical features

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