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Muscle-eye-brain disease with bilateral multicystic leucodystrophy

Disease definition

A rare, genetic, congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.

ORPHA:370997

Classification level: Disorder
  • Synonym(s):
    • MEB disease with bilateral multicystic leucodystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: G71.0
  • OMIM: 616538
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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