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Results 1 - 10 of 19 for Intellectual "disability," autosomal dominant 42
  1. MBD5-associated neurodevelopmental disorder 
    ... microduplication syndrome MAND MBD5 haploinsufficiency Genetic Testing Registry: Intellectual disability, autosomal dominant 1 National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/...d5-associated-neurodevelopmental-disorder - 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. 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
  4. KBG syndrome 
    ... its function may lead to developmental delay and intellectual disability in KBG syndrome. However, the mechanism is not ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  5. 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
  6. GCH1 gene 
    ... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive ... Metab Dis. 2009 Jun;32(3):333-42. doi: 10.1007/s10545-009-1067-2. Epub ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  7. DNMT3A overgrowth syndrome 
    ... methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014 Apr;46(4):385-8. ...
    https://medlineplus.gov/.../condition/dnmt3a-overgrowth-syndrome - Genetics
  8. Cowden syndrome 
    ... small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication ...
    https://medlineplus.gov/genetics/condition/cowden-syndrome - Genetics
  9. ELN gene 
    ... disorder that is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  10. RELN gene 
    ... structures do not develop properly. This leads to intellectual disabilities, delays in overall development, movement problems, and other ... Michelucci R, Nobile C. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
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