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Campomelia, Cumming type

Disease definition

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.

ORPHA:1318

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 211890
  • UMLS: C1859371
  • MeSH: C537966
  • GARD: 1061
  • MedDRA: -
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