It had been reported that pathologic homozygous or bi-allelic heterozygous mutations in POLR3A could cause the occurrence of Wiedemann-Rautenstrauch syndrome (WDRTS; Paolacci et al., 2018) or Hypomyelinating leukodystrophy 7 (HLD7, OMIM# 607694) (Bernard et al., 2011) under an autosomal recessive (AR) mode of inheritance. The gene discussed is POLR3A; the disease is Wiedemann-Rautenstrauch syndrome.