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Results 1 - 9 of 9 for Intellectual "disability," autosomal dominant 8
  1. ALDH18A1 gene 
    ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than autosomal dominant.Most ALDH18A1 gene variants involved in cutis laxa ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  2. KCNT1 gene 
    ... gene have been found in several people with autosomal dominant nocturnal frontal lobe ... disability. The KCNT1 gene variants involved in this condition ...
    https://medlineplus.gov/genetics/gene/kcnt1 - Genetics
  3. GCH1 gene 
    ... Hanna MG, Davis MB, Wood NW, Bhatia KP. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry. 2009 Aug;80(8):839-45. doi: 10.1136/jnnp.2008.155861. ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  4. ELN gene 
    ... 827-31. doi: 10.1007/s00246-005-0885-8. Citation on PubMed Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrio A, Mila M. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol. 2004 Sep; ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  5. WASHC5 gene 
    ... B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic ... PN, Rouleau GA. Spastic Paraplegia 8. 2008 Aug 13 [updated 2020 May 21]. In: ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  6. MSX1 gene 
    ... Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J ... 2002 Apr;81(4):274-8. doi: 10.1177/154405910208100410. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/msx1 - Genetics
  7. DYRK1A gene 
    ... have a particular combination of additional features, including intellectual disability, speech problems, anxiety, and an unusually small head ( ... signs and symptoms is sometimes called DYRK1A-related intellectual disability syndrome.DYRK1A gene mutations result in loss of ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  8. CACNA1A gene 
    ... an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other health problems. Researchers are ... encephalopathy caused by CACNA1A gene variants often experience intellectual disability, ataxia, nystagmus, and weak muscle tone (hypotonia). Studies ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  9. TBC1D24 gene 
    ... short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics