SRCAP

Clinical Characteristics

DEHMBA is different from Floating-Harbor syndrome (FLHS), which is another disorder related to the SRCAP gene. "DEHMBA," stands for Developmental Delay, Hypotonia (muscle weakness), Musculoskeletal Defects (problems with bones and muscles), and Behavioral Abnormalities. People with DEHMBA have some common features like delayed development, muscle weakness, bone and muscle problems, and behavioral issues such as autism or attention problems. We don't know how common DEHMBA is because it's a relatively new condition, and not many cases have been reported in medical literature. People with DEHMBA can have a wide range of symptoms, so it's a variable and not very specific condition.

DEHMBA is usually caused by changes in the SRCAP gene that occur for the first time in a person, which we call "de novo." It means these changes are not inherited from their parents. They happen by chance in that person.