Mutations in MYO18B gene may lead to:
• Decreased muscle tone
• Muscle weakness (more in the lower extremities, usually does not progress over time)
• Mild malformations involving the face, including features such as a bulbous nose, drooping of the eyelid, high-arched palate (roof of the mouth), lower position of the ears, small chin, and low hairline in the back of the head.
• Klippel-Feil anomaly (fusion of the vertebrae in the neck; may cause restricted neck movement)
• Short stature
• Scoliosis (abnormal curvature of the spine)
• Fusion of the thoracic vertebrae in the back (reported in single case)
• Disease of the heart muscle that may lead to heart failure (reported in a single case)
MYO18B