MYO18B

Clinical Characteristics for Families

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)