What is Autosomal dominant mental retardation-56?
Autosomal dominant mental retardation-56 is a genetic disorder caused by a change in the CLTC gene.
A genetic change in the CLTC gene (also called a mutation or a pathogenic variant) has been linked to developmental delay/intellectual disability (ID) and subtle facial similarities among the affected individuals. Other observed characteristics were behavioral problems, neurologic problems, ophthalmologic and gastrointestinal problems, but not all individuals with a change in the CLTC gene have these features.
How many people are affected by autosomal dominant mental retardation-56?
Autosomal dominant mental retardation-56 is a rare disease. So far, only 27 patients with a change in the CLTC gene are known from the medical literature. We are still learning more about this condition.