Three different subgroups representing SRCAP mutations and associated syndromes have been reported: Floating-Harbour syndrome (FLHS; OMIM #136140) with a clear episignature, proximal variants with developmental delay, hypotonia, musculoskeletal defects, and behavioural abnormalities (DEHMBA; OMIM #619595), and distal variants with DEHMBA. The gene discussed is SRCAP; the disease is Floating-Harbor syndrome.