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