ATP6V0A1 and atypical Rett syndrome: From a series of 115 individuals with Rett or Rett-like syndrome, a de novo p. R741Q change in ATP6V0A1 (corresponding to p. R740Q according to the updated reference sequence NM_001130021.3 used in this manuscript) was first identified by trio-based WES as a variant of uncertain significance in one proband with gait abnormalities, stereotypic hand movements and partial loss of hand skills.65