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  • Craniofrontonasal syndrome Relevant markers:
    BrachycephalyClinodactyly 5th fingerFrontal bossingHypertelorismCongenital diaphragmatic hernia (CDH)Midline cleft lipmidline cleft in hard palateHigh forehead
    Parents markers:
    Agenesis of corpus callosum (ACC)CraniosynostosisSyndactyly of fingersSyndactyly of toes
      Involved genes:
      (gene — definition — chromosome)      		EFNB1 — EPHRIN B1 — Xq13.1
      Inheritance mode:X-linked dominant
      Other online databases:OMIM
      References:
      1993 Clin Dysmorphol Case report Read on PubMed
      2010 Am J Med Genet A Case report Read on PubMed
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