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  • Hydrolethalus syndrome Relevant markers:
    Facial cleftHypoplastic lung/sHypospadias/tulip signLow set ear/sMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPostaxial polydactyly of fingersPreaxial polydactyly of footTalipesPolyhydramnios
    Parents markers:
    Agenesis of corpus callosum (ACC)Atrioventricular septal defect (AVSD)Cleft in hard palateCleft lipHeartHoloprosencephalyMalformations of cortical developmentMicrophthalmiaNeural tube defectPolydactyly of hand/sVentriculomegalyVentricular septal defect (VSD)
      Incidence:1/20000 — -
      Involved genes:
      (gene — definition — chromosome)      		HYLS1 — 11q24.2, KIF7 — 15q26.1
      Inheritance mode:AR
      Other online databases:OrphaNet, OMIM, Geneva Foundation
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