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MULIBREY nanism

Disease definition

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

ORPHA:2576

  • Synonym(s):
    • MULIBREY dwarfism
    • Muscle-liver-brain-eye nanism
    • Perheentupa syndrome
    • Pericardial constriction-growth failure syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 253250
  • UMLS: C0524582  C2931895
  • MeSH: C538604  D050336
  • GARD: 95
  • MedDRA: -

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