Whole-exome sequencing identified a homozygous pathogenic ADAR frameshift variant (NM_001111.5:c.2433_2434del) and a homozygous likely pathogenic TSHB variant (NM_000549.5:c.313T >C; p.Cys105Arg), confirming combined ADAR-related encephalopathy and isolated C-CH. This evidence concerns the gene ADAR and cyclic hematopoiesis.