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Genetic and Rare Diseases Information Center (GARD)

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Berk-Tabatznik syndrome

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Other Names for Berk-Tabatznik syndrome

  • Cleft nare, brachydactyly, short stature dwarfism
  • Congenital optic atrophy and brachytelephalangy
  • Kyphosis brachyphalangy optic atrophy
  • Short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges