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Results 11 - 17 of 17 for Intellectual "disability," autosomal dominant 39
  1. Congenital central hypoventilation syndrome 
    ... CCHS, life expectancy and the extent of any intellectual disabilities depend on the severity of the disorder, timing ... CCHS. PHOX2B This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  2. Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 
    ... systems. This condition primarily affects neurological development, causing intellectual disability, delayed development of speech and motor skills (such ...
    https://medlineplus.gov/...thout-anomalies-of-the-brain-eye-or-heart - Genetics
  3. Acrocallosal syndrome 
    ... with this condition lead to delayed development and intellectual disability, which is most often moderate to severe. Some ... syndrome) resulting from GLI3 gene mutations is considered autosomal dominant , which means one copy of the altered gene ...
    https://medlineplus.gov/genetics/condition/acrocallosal-syndrome - Genetics
  4. Noonan syndrome 
    ... few have special educational needs, and some have intellectual disability. Some affected individuals have vision or hearing problems. ... RRAS SOS2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  5. Cherubism 
    ... alteration. SH3BP2 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/cherubism - Genetics
  6. Septo-optic dysplasia 
    ... condition. In other cases, the condition has an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia - Genetics
  7. SADDAN 
    ... causes acanthosis nigricans. FGFR3 SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 ...
    https://medlineplus.gov/genetics/condition/saddan - Genetics
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