Through WES, we have identified in one individual with ASD and macrocephaly, referred to as F2688-1, the previously characterized compound heterozygous missense variants in the RELN gene [14], and a de novo heterozygous splice donor site variant in intron 13 of the CACNA1H gene (NM_001005407:c.2907+1 G>A) (Table 1; Supplementary Table S2; Supplementary Fig. S1A). Here, CACNA1H is linked to Macrocephaly.