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Intellectual "disability," autosomal dominant 52
- ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National ...
- ... 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20. Citation on PubMed or Free article on PubMed Central ... W, Quinn N, Rome J. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 ...
- ... 22q13.3 deletion syndrome, such as developmental delay, intellectual disability, and absent or severely delayed speech. Additional genes ... disrupts the normal course of development, leading to intellectual disability and birth defects. Researchers are working to determine ...
- ... 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 ...
- ... this condition typically have only mild to moderate intellectual disability.There are three types of megalencephalic leukoencephalopathy with ... type 2B usually have macrocephaly and may have intellectual disability. Megalencephalic leukoencephalopathy with subcortical cysts is a rare ...
- ... The inheritance of 22q11.2 duplication is considered autosomal dominant because the duplication affects one of the two ...
- ... SLC2A1 This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... 2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of ... 2 deletion syndrome is considered to have an autosomal dominant inheritance pattern because a deletion in one copy ...
- ... short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people ...
- ... This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial ...
