FAM149B1

Clinical Characteristics

The clinical features of FAM149B1-related ciliopathy include:

  • Intellectual disability
  • Developmental delay
  • Oculomotor apraxia
  • Ptosis
  • Polydactyly
  • Other variable clinical features, including:
    • Hypotonia
    • Lusterless hair
    • Joubert facies (prominent forehead, high and rounded eyebrows, upturned nose, anteverted nares, open mouth)
    • Neurosensory hearing loss
    • Macrocephaly
    • Epilepsy
    • Midline cleft
    • Narrow chest with pectus carinatum
    • Congenital heart disease