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  • Septo-optic dysplasia Relevant markers:
    Communicating lateral ventriclesHypoplastic optic nervesSchizencephalyBilateral hypoplasia/atrophy of cerebellumHypotelorism
    Parents markers:
    Agenesis of corpus callosum (ACC)VentriculomegalyCleft lipCleft in hard palate
      Involved genes:
      (gene — definition — chromosome)      		HESX1 — 3p14.3
      Inheritance mode:AD, AR
      Other antenatal testing:- evaluation of maternal urine and serum estriol levels (low in SOD) - fetal blood assays for growth hormone, adrenocorticotropic hormone (ACTH) and prolactin (low in SOD) - search for optic nerve hypoplasia (MRI)
      Other online databases:OrphaNet, OMIM, Geneva Foundation
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