Clinical features include:
Neurological
• Hypotonia
Head and Neck
• Facial dysmorphia, including features such as bulbous nose, ptosis, high-arched palate, low set ears, micrognathia, and low-posterior hairline
Musculoskeletal
• Muscle weakness (more in the lower proximal extremities, usually nonprogressive)
• Klippel-Feil anomaly
• Short stature
• Scoliosis
• Pectus excavatum
• Segmentation anomaly of the thoracic spine
Cardiovascular
• Cardiomyopathy (reported in a single case)
MYO18B