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1.

Sengers syndrome

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]

MedGen UID:
395228
Concept ID:
C1859317
Disease or Syndrome
2.

Exercise-induced lactic acidemia

A form of lactic acidemia that occurs following exercise or exertion. [from HPO]

MedGen UID:
870819
Concept ID:
C4025277
Disease or Syndrome

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