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Leigh syndrome with nephrotic syndrome

Disease definition

A rare, genetic neurometabolic disease characterized by encephalomyopathy (including developmental delay, nystagmus, progressive ataxia, dystonia, amyotrophy, visual loss, sensorineural deafness, seizures) and bilateral, symmetrical lesions in the basal ganglia or brainstem on imaging, associated with nephrotic syndrome.

ORPHA:255249

Classification level: Disorder
  • Synonym(s):
    • Infantile subacute necrotizing encephalopathy with nephrotic syndrome
    • Leigh disease with nephrotic syndrome
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • OMIM: 607426  614652
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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