Orphanet: Mulibrey nanism

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Mulibrey nanism

Disease definition

A rare developmental defect during embryogenesis characterized by growth delay and multiorgan manifestations.


Classification level: Disorder
  • Synonym(s):
    • MUL
    • Mulibrey growth disorder
    • Muscle-liver-brain-eye nanism
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 253250
  • UMLS: C0524582  C2931895
  • MeSH: C538604  D050336
  • GARD: 95
  • MedDRA: -

Detailed information


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