CHARGE syndrome

Pathology

• tetralogy of Fallot & other cardiac anomalies
• colobomas
• choanal atresia
• mental retardation & growth deficiency
• genital & ear anomalies

Genetics

• most affected individuals have mutations in the CHD7 gene

More general terms

• developmental disorder
• syndrome

Database

• OMIM: https://mirror.omim.org/entry/214800