Maternally inherited birk barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9

Several analyses are conducted to explain the symptoms, causes and effects of the maternally transmitted birk barel dysmorphism syndrome of mental retardation, namely hypotonia. The disorder is shown to be caused by a mutation in the genomically imprinted potassium channel KCNK9 by exhibiting a dual function of a homodimer, as well as of a heterodimer.