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Autosomal recessive multiple pterygium syndrome


Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive non-lethal multiple pterygium syndrome
    • EVMPS
    • Escobar syndrome
    • Escobar variant multiple pterygium syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Infancy, Neonatal
  • ICD-10: Q79.8
  • OMIM: 265000  618469
  • UMLS: -
  • MeSH: -
  • GARD: 7111
  • MedDRA: -

Detailed information


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