This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Autosomal dominant intellectual disability 49 is a rare disorder characterized by delayed neurologic development, mild intellectual disability, and learning difficulties.[14779][14780] 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.[14780][14781] 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.[14780]
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