mitochondrial DNA depletion syndrome, encephalomyopathic form
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
MONDO:0018158
mitochondrial DNA depletion syndrome
is_a
mtDNA depletion syndrome, encephalomyopathic form
exact
SPCC1620.08 SPBC25D12.04 SPAC16E8.17c