Conditions / Genetic

mitochondrial DNA depletion syndrome 19

info · Genetic

A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3.

Signs and symptoms

  • Hearing impairment
  • Hydrocele testis
  • Hypoplasia of the corpus callosum
  • Increased circulating lactate concentration
  • Tetraparesis
  • Multifocal epileptiform discharges
  • Generalized hypotonia
  • Decreased activity of mitochondrial complex I
  • Dyskinesia
  • Infantile spasms