EXOC6B

Clinical Characteristics for Families

Individuals affected with SEMDJL-3 have:
•    Short stature
•    Dislocations at multiple joints
•    Increased ability of joints to move passively beyond its normal limits
•    Slender fingers and toes
•    Abnormal curvature of spine
•    Formation of carpal bones (present at wrists) occurs later than age adjusted norms