All patients with autosomal recessive diseases had consanguineous families (Tables 1–3); except the patient with MTHFR mutation and the patient with TBX19 mutation (Table 2) who had families of the same tribe/ region; the patient with compound heterozygous mutations in MPDZ (Table 1) and the patients with PCSK1, AHI1, and DOCK7 mutations (Table 3). This evidence concerns the gene PCSK1 and autosomal recessive disease.