CHD3

Clinical Characteristics

The majority of individuals with CHD3 mutations have developmental delay and intellectual disability of various degrees. Some individuals also have autism. They also tend to have a large head and forehead. They have hypotonia (floppiness) when they are young, and have joint laxity. They may present with undescended testes, umbilical, inguinal, and hiatal hernias. Visual problems are not uncommon.