Dominant variants in ATP6V1B2 [MIM 606939], encoding a vacuolar ATPase, have been associated with three different syndromes, namely Zimmermann–Laband syndrome type 2 (ZLS2 [MIM: 616455]) [11], congenital deafness with onychodystrophy syndrome (DDOD [MIM: 124480]) [12,13,14,15] and deafness with onychodystrophy, osteodystrophy, intellectual disability (ID) with or without seizures syndrome (DOORS [MIM: 220500]) [16]. Here, ATP6V1B2 is linked to DOORS syndrome.