FAM149B1

Clinical Characteristics

The clinical features of FAM149B1-related ciliopathy include:

  • Intellectual disability
  • Developmental delay
  • Defect in the control of voluntary, purposeful eye movement
  • Drooping of the upper eyelid
  • Extra fingers or toes
  • Other variable clinical features, including:
    • Decreased muscle tone
    • Lusterless hair
    • Joubert facies (prominent forehead, high and rounded eyebrows, upturned nose, open mouth)
    • Hearing loss
    • Larger-than-normal head
    • Epilepsy
    • Cleft lip or palate
    • Chest wall deformities
    • Congenital heart disease