KBG syndrome
SYNDROME THAT IS CHARACTERIZED BY SHORT STATURE, MODERATE TO SEVERE DEGREES OF MENTAL RETARDATION, DEVELOPMENTAL ABNORMALITIES OF THE LIMBS, BONES OF THE SPINE (VERTEBRAE), EXTREMITIES, AND/OR UNDERDEVELOPMENT OF THE BONES OF THE SKELETON
KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene at location 16q24.3.