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  1. Multiple Endocrine Neoplasia- Type 2B
  2. Mobius Syndrome
  3. Cat Eye Syndrome
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  5. Winkelman Bethge Pfeiffer Syndrome
  6. Hyposmia Nasal Hypoplasia Hypogonadism
  7. Fetal Alcohol Syndrome
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Adducted thumb syndrome recessive form

  1. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.
  2. Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
  3. Frank-ter Haar syndrome with unusual clinical features.