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  • Schneckenbecken dysplasia Relevant markers:
    Angulated bonesNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosShort long bones
    Parents markers:
    FaceHypomineralization of vertebral bodyMacrocephalyMicromelia - armsPlatyspondylySkin edema
      Involved genes:
      (gene — definition — chromosome)      		SLC35D1 — SOLUTE CARRIER FAMILY 35 — 1p31.3
      Other online databases:OMIM
      References:
      2004 Ultrasound Obstet Gynecol Case report Read on PubMed
      2009 Fetal Diagn Ther Case series of 4 cases Read on PubMed
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