PLEKHG2 and Global developmental delay: MD-181 (homozygous PLEKHG2 p.T53I) showed very early-onset hypotonia, and developmental delay rapidly evolved into spastic-dystonic tetraparesis from 6 months old (Table 1 and Table 2), when subtle symmetrical T2 hyperintensities on thalami and deep white matter were detected (Figure 2J).