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Results 1 - 10 of 55 for Intellectual "disability," autosomal dominant 30
  1. SETBP1 haploinsufficiency disorder 
    ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 Intellectual developmental disorder, autosomal dominant 29 National ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
  2. PACS1 syndrome 
    ... no history of the disorder in their family. Autosomal dominant intellectual disability-17 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome PACS1- ...
    https://medlineplus.gov/genetics/condition/pacs1-syndrome - Genetics
  3. Osteopetrosis 
    ... had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Autosomal dominant osteopetrosis is the most common form of the ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  4. Coffin-Siris syndrome 
    ... brain, neurons, and possibly other tissues, leading to intellectual disability and other signs and symptoms of Coffin-Siris syndrome. ... Coffin-Siris syndrome appears to follow an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  5. 17q12 deletion syndrome 
    ... copy of LHX1 is thought to contribute to intellectual disability, behavioral and psychiatric conditions, and ... This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  6. Noonan syndrome 
    ... of these gene changes. Noonan syndrome is an autosomal dominant condition. This means only one parent has to pass down the nonworking gene for the child to have the syndrome. However, some cases may not be inherited.
    https://medlineplus.gov/ency/article/001656.htm - Medical Encyclopedia
  7. 17q12 duplication 
    ... in more than one copy, contribute to intellectual disability, delayed development, and the other signs ... 17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/17q12-duplication - Genetics
  8. Dentatorubral-pallidoluysian atrophy 
    ... death of these neurons lead to uncontrolled movements, intellectual decline, and the other characteristic features of DRPLA. ATN1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../dentatorubral-pallidoluysian-atrophy - Genetics
  9. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Birth Defects/Reference Desk ... Birth Defects ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy ... Genetic Disorders/Reference Desk ... Genetic Disorders ... Genetic ...
    https://www.genome.gov/genetics-glossary - External Health Links
  10. Limb-girdle muscular dystrophy 
    ... disorder that have an inheritance pattern called autosomal dominant. ... for about 30 percent of cases. Dysferlinopathy, also called limb-girdle ...
    https://medlineplus.gov/.../condition/limb-girdle-muscular-dystrophy - Genetics
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