In one infant with multiple brain malformations, growth and developmental delay, congenital hypothyroidism, and combined T- and B-cell lymphopenia (CD3—1,280 cells/μL, CD19—76 cells/μL), a heterozygous variant of uncertain significance (VUS) с.5878Т>C (p.Ser1960Pro) in CHD7 gene was detected, consistent with a possible diagnosis of CHARGE syndrome. Here, CHD7 is linked to CHARGE syndrome.