This website provides information on individuals with disease-causing variants in the gene CLDN11, including clinical data, molecular data, management and research options.
Hypomyelinating leukodystrophy 22 (HLD22) (OMIM # 619328) is a neurologic disorder caused by heterozygous variants in CLDN11. So far (04/2022), only de novo stop-loss variants putatively extending the mature protein have been reported as disease-causing. It is a multisystem disorder characterized by early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia.
Not all individuals with a disease-causing variant in CLDN11 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 disease-causing variants in CLDN11.
Sylvia Stockler, MD, Division of Biochemical Genetics, Department of Pediatrics, B.C. Children's Hospital, The University of British Columbia, Vancouver, Canada, email@example.com
Korbinian M. Riedhammer, MD, Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany, firstname.lastname@example.org