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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 ...
- ... same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak ... with the duplication have no apparent physical or intellectual disabilities. The prevalence of the 22q11.2 duplication in ...
- ... 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 ...
- ... GLUT1 deficiency syndrome may have developmental delay or intellectual disability. Most affected individuals also have other neurological problems, ... but they may still have developmental delay and intellectual disability. Most have movement problems such as ataxia or ...
- ... people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary ...
- ... subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... this condition have low-average to average intelligence. Intellectual disability or borderline intellectual ability occur in about one- ... 23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 ...
- ... This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial ...
