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Results 1 - 10 of 37 for Intellectual "disability," autosomal dominant 50
  1. ADNP syndrome 
    ... autism spectrum disorder ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Helsmoortel-van der Aa syndrome HVDAS Mental retardation, autosomal dominant 28 MRD28 Genetic Testing Registry: ADNP-related multiple ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  2. 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
  3. Williams Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - External Health Links
  4. Potocki-Lupski syndrome 
    ... extra copy of the RAI1 gene leads to intellectual disability and the other signs and symptoms of this condition. Extra ... This condition has an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  5. Saethre-Chotzen syndrome 
    ... affected children are much more likely to have intellectual disability, developmental delay, and learning ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-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 variant gene for the child to have the syndrome. However, some cases may not be inherited and instead happen by chance (spontaneously).
    https://medlineplus.gov/ency/article/001656.htm - Medical Encyclopedia
  7. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Genetic Disorders/Reference Desk ... Genetic Disorders ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy ... Birth Defects/Reference Desk ... Birth Defects ... Genetic ...
    https://www.genome.gov/genetics-glossary - External Health Links
  8. 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
  9. Opitz G/BBB syndrome 
    ... lead to problems in the urinary tract.Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  10. Alagille Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Bile Duct Diseases/Genetics ... Bile Duct Diseases ... Congenital Heart Defects/Genetics ... Congenital Heart Defects ... Genetic and Rare Diseases Information Center ... From ...
    https://rarediseases.info.nih.gov/diseases/804/alagille-syndrome - External Health Links
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