CASK and Hypertonia: Hypotonia (except for VLDL, MINPP1, TOE1, TSEN2, SEPSECS, CHMP1A and PCLO), hypertonia (except for RARS2, HEATHR5, CASK, EXOSC8, TC1D23; TSEN2, CHMP1A and PCLO) and axial hypotonia and distal hypertonia (AHDH) (CLP1, EXOSC3, AMPD2, RARS2, CASK, MINPP1, CHMP1A and PCLO) were determined in 38.9%(23/59), 30.5% (18/59), and 23.7% (14/59), respectively.