This website provides information on patients with mutations in the KCNN3 gene, including clinical data, molecular data, management and research options.

The genetic disease caused by mutations in the KCNN3 gene is called Zimmerman-Laband syndrome. Zimmermann–Laband syndrome is a rare 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.

Not all individuals with a mutation in the KCNN3 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KCNN3 gene.

Martin Schwarz, MD, Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic, martin.schwarz@lfmotol.cuni.cz

Lukáš Ryba, MD, Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic, lukas.ryba@fnmotol.cz

Markéta Havlovicová, MD, Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic, marketa.havlovicova@fnmotol.cz