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Results 1 - 10 of 33 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. Potocki-Lupski syndrome 
    ... extra copy of the RAI1 gene leads to intellectual disability and the other signs and symptoms of this ... This condition has an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  4. Saethre-Chotzen syndrome 
    ... affected children are much more likely to have intellectual disability, developmental delay, and ... 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
  5. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Genetic Testing/Reference Desk ... Genetic Testing ... Genes and Gene Therapy/Reference Desk ... Genes and Gene Therapy ... Genetic Counseling/Reference Desk ... Genetic Counseling
    https://www.genome.gov/genetics-glossary - External Health Links
  6. 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
  7. Noonan Syndrome (Mayo Foundation for Medical Education and Research)  
    Craniofacial Abnormalities/Specifics ... Craniofacial Abnormalities ... Genetic Disorders/Specifics ... Genetic Disorders ... Mayo Foundation for Medical Education and Research
    https://www.mayoclinic.org/.../symptoms-causes/syc-20354422?p=1 - External Health Links
  8. Genetic Disorders (Pregnancy) (American College of Obstetricians and Gynecologists)  
    Genetic Disorders/Women ... Genetic Disorders ... American College of Obstetricians and Gynecologists ... This patient FAQ presents information to help patients understand ...
    https://www.acog.org/womens-health/faqs/genetic-disorders - External Health Links
  9. Gorlin syndrome 
    ... typically associated with Gorlin syndrome, including delayed development, ... the PTCH1 gene account for 50 to 85 percent of cases of Gorlin syndrome, ...
    https://medlineplus.gov/genetics/condition/gorlin-syndrome - Genetics
  10. Nevoid basal cell carcinoma syndrome 
    ... most commonly passed down through families as an autosomal dominant trait. This means you develop the syndrome if either parent passes the gene to you. If either of your parents has this syndrome, you have a 50 percent chance of having it. It is also ...
    https://medlineplus.gov/ency/article/001452.htm - Medical Encyclopedia
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