Zimmermann-Laband syndrome (ZLS) is a rare, heterogeneous disorder characterized by gingival hypertrophy or fibromatosis, aplastic/hypoplastic nails, hypoplasia of the distal phalanges, hypertrichosis, various degrees of intellectual disability, and distinctive facial features. Three genes are considered causative for ZLS: KCNH1, KCNN3 and ATP6V1B2.
Only eight ZLS patients with the KCNN3 pathogenic variant have been reported so far. Inheritance mode in KCNN3 is autosomal dominant.
KCNN3