Mitochondrial DNA depletion syndrome, encephalomyopathic form

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Description

A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.

SNOMEDCT_US

  • Mode of Inheritance

    VARIANTS

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