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Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Disease definition

A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.


Classification level: Disorder
  • Synonym(s):
    • mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • OMIM: 615471
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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