The condition is referred to as Developmental Delay, Hypotonia, Muskulosketetal Defects and Behavioral Abnormalities (DEHMBA) referring to the main clinical features including developmental delay with or without accompanying intellectual disability, hypotonia, musculoskeletal complications (musculoskeletal pain, scoliosis, joint hypermobility), behavioral and psychiatric issues (Autism spectrum disorder, ADHD, anxiety) and non-specific facial characteristics. Overall it is a variable and nonspecific phenotype. The prevalence of DEHMBA is unknown. The inheritance pattern of DEHMBA is autosomal dominant. Most mutations arose de novo.
SRCAP