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Muscle-eye-brain disease

ORPHA:588

  • Synonym(s):
    • MEB syndrome
    • Muscle-eye-brain syndrome
    • Santavuori congenital muscular dystrophy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 236670  253280  253800  613150  613153  613154  615181  615350
  • UMLS: C0457133
  • MeSH: -
  • GARD: 156
  • MedDRA: -

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