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