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Results 1 - 10 of 15 for Intellectual "disability," autosomal dominant 52
  1. SYNGAP1-related intellectual disability 
    ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National ...
    https://medlineplus.gov/.../syngap1-related-intellectual-disability - Genetics
  2. Opitz G/BBB syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  3. Huntington Disease From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Huntington's Disease/Learn More ... Huntington's Disease ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and ...
    https://rarediseases.info.nih.gov/diseases/6677/huntington-disease - External Health Links
  4. Chromosome 22 
    ... 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 ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  5. 22q11.2 duplication 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/22q112-duplication - Genetics
  6. Polymicrogyria 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  7. GLUT1 deficiency syndrome 
    ... SLC2A1 This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  8. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  9. 7q11.23 duplication syndrome 
    ... 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 ...
    https://medlineplus.gov/.../condition/7q1123-duplication-syndrome - Genetics
  10. TBC1D24 gene 
    ... short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
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