Autosomal dominant intellectual disability 49

Autosomal dominant intellectual disability 49 is a rare disorder characterized by delayed neurologic development, mild intellectual disability, and learning difficulties. In many cases, autistic features or behavioral abnormalities are also present. Additional symptoms may include low muscle tone; delayed speech; seizures; crossed eyes (strabismus); distinctive facial features (such as up-slanting palpebral fissures and a wide, down-turning mouth); and mild abnormalities of the hands or feet. No internal organ abnormalities have been described. This disorder is caused by pathogenic variants (mutations) in the TRIP12 gene. Inheritance is autosomal dominant, but most cases are sporadic, occurring for the first time in a person with no family history of the disorder. Treatment aims to address the symptoms present in each person.