This website provides information on patients with mutations in the NRCAM gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the NRCAMgene is a multisystem disorder characterized by developmental delay, hypotonia, and peripheral neuropathy or spasticity.
Not all individuals with a mutation in the NRCAMgene 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 NRCAMgene.
Hagit Baris Feldman, MD, The Genetics institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, hagitbf@tlvmc.gov.il
Alina Kurolap, RN, PhD, The Genetics institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, alinak@tlvmc.gov.il