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1p36 Deletion Syndrome

Main Features

  • Developmental Delay
  • Seizures
  • Brain Malformation

Eye Findings

  • Strabismus
  • Refractive Error
  • Optic nerve atrophy
  • bilateral lamellar cataract

Other Findings


  • from Reference (2):1p36 Deletion Syndrome Support
  • Microbrachycephaly
  • Distinctive facial features
    • Deep-set eyes, straight eye brows, mid face hypoplasia, broad flat nose, long philtrum, pointed chin, low-set and
    • backwards rotated ears

    • from Reference (1)
  • Brachylactyly
  • camptodactyly
  • short feet
  • Hearing problems

Etiology

  • Deletion of 1p36

Resources