Figure 3 depicts the diagnostic process and genetic testing results for this cohort. In cases of atypical CP, this study identified three copy number variations (CNVs), including 15q11.2 microdeletion (n = 1), 17p11.2 duplication (n = 1), and 12p13.33p11.23 duplication/18p11.32 microdeletion (n = 1), and six likely pathogenic variants (LPVs) or pathogenic variants (PVs) detected in the SLC2A1, PLAA, CDC42BPB, CACNA1D, ALG12, and SACS genes (n = 6). The genetic alteration profiles of the positive patients with atypical cerebral palsy and their clinical implications are summarized in Table 2. Here, CDC42BPB is linked to cerebral palsy.