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Results 1 - 10 of 29 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 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
  4. 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
  5. 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
  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. 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% chance of having it. It is also possible ...
    https://medlineplus.gov/ency/article/001452.htm - Medical Encyclopedia
  8. 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
  9. Charcot-Marie-Tooth disease 
    ... and most intermediate forms are inherited in an autosomal dominant ... affected parent has a 50 percent chance of inheriting the disorder.CMT4, a ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  10. Weaver syndrome 
    ... the relationship between these brain abnormalities and the intellectual disability associated ... is unknown. About 50 affected individuals have been described in the medical ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
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