Bain type of X-linked syndromic intellectual disability

Disease Overview

Bain type of X-linked syndromic intellectual disability is a genetic syndrome characterized by developmental delay, intellectual disability, autism, hypotonia, and seizures. Other symptoms may include loss of acquired skills (developmental regression), behavioral problems, stiffness or tightness of the muscles (spasticity), problems coordinating movements, small head, unusual facial features, and short stature. Some individuals also develop mental disorders such as anxiety, attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and stereotyped behaviors. The syndrome has only been identified in females. It is caused by mutations in the HNRNPH2 gene which is located on the X chromosome. Treatment is symptomatic and supportive.[14195]

Synonyms

• HNRNPH2 deficiency