Mutations in MEOX1 may cause the following clinical manifestations:
Head
- Sensorineural or conductive hearing loss (rare)
- Abnormally shaped ears (rare)
- Cleft lip (rare)
- Cleft palate (rare)
Neck
- Short neck
- Restriction of neck mobility
Heart
- Ventriculoseptal defect (rare)
Skeletal
- Anomalies of the foramen magnum
- Fusion of cervical vertebrae
- Scoliosis
- Omovertebral bone anomaly
- Sprengel anomaly
Other
- Low posterior hairline
- Pierre-Robin sequence (rare)
- Congenital ptosis (rare)