For the other 7 genes (ATP6V0A1, MAEA, CMIP, PKN2, SPTBN1, RBMS1 and PUM2), there was functional data supporting the association, but the patient evidence is currently less strong as we only have single, intellectual disability cases with detailed clinical phenotypes, or de novo variants are also observed in cases affected with other types of rare disease. The gene discussed is SPTBN1; the disease is Intellectual disability.