MTHFR and autosomal recessive disease: 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).