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Hydrolethalus

Disease definition

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

ORPHA:2189

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 236680  614120
  • UMLS: C2931104
  • MeSH: C536079
  • GARD: 6683
  • MedDRA: -
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