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  • Opitz GBBB syndrome Relevant markers:
    Anal atresiaFacial cleftHydropsHypertelorismHypospadias/tulip signMega cisterna magnaPolyhydramnios
    Parents markers:
    Agenesis of corpus callosum (ACC)Cleft lipCleft palateHeart
      Involved genes:
      (gene — definition — chromosome)      		MID1 — MIDLINE 1 — Xp22.2, SPECC1L — SPERM ANTIGEN WITH CALPONIN HOMOLOGY AND COILED-COIL DOMAINS 1-LIKE — 22q11.23
      Inheritance mode:AD, X-linked
      Other online databases:OMIM
      References:
      2015 Biomed Res Int Case report and review of literature Read on PubMed
      2017 Clin Dysmorphol 2 cases of fetuses Read on PubMed
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