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Intellectual "disability," autosomal dominant 13
- ... before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities ... those with HDAC8 gene variants may have significant intellectual disability.In about 15 percent of cases, the cause ...
- ... s disease. Down syndrome, a condition characterized by intellectual disability and other health problems, occurs when a person ... familial Alzheimer's disease is inherited in an autosomal dominant pattern, which means one copy of an altered ...
- ... normal range.People with Sotos syndrome often have intellectual disability, and most also have neurodevelopmental disorders. Conditions that ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one ...
- ... and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed ... syndrome's characteristic signs (such as developmental delay, intellectual disability, and impaired speech). Additional genes in the deleted ...
- ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
- ... often have delayed development and mild to moderate intellectual disability.Other common features of Shprintzen-Goldberg syndrome include ... another genetic condition called Loeys-Dietz syndrome. However, intellectual disability is more likely to occur in Shprintzen-Goldberg ...
- ... common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting ... of the syndrome's characteristic signs (such as intellectual disability and skeletal abnormalities). While the deleted segment in ...
- ... of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, ...
- ... and children with the condition typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking movements ... development. Both disorders are characterized by impaired development, intellectual disability, and problems with communication and language. However, Rett ...
- ... CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
