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Results 1 - 6 of 6 for Intellectual "disability," autosomal recessive 7
  1. ASPM gene 
    ... ASPM gene are the most common cause of autosomal recessive primary microcephaly (often ... disability, and delayed development. More than 80 mutations in ...
    https://medlineplus.gov/genetics/gene/aspm - Genetics
  2. VLDLR gene 
    ... of the brain are also affected, resulting in intellectual disability and the other major features of this condition. More About This Health Condition ... A, Parboosingh JS. Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). J ...
    https://medlineplus.gov/genetics/gene/vldlr - Genetics
  3. UNC80 gene 
    ... Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 7;98(1):202-9. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  4. GCH1 gene 
    ... Dopa-responsive dystonia. Brain. 2009 Jul;132(Pt 7):1753-63. doi: ... GTP-CH1 deficiency: identification and functional characterization of ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  5. POLR3A gene 
    ... by POLR3A mutations. Arch Neurol. 2012 Jul;69(7):920-3. doi: 10.1001/archneurol.2011.1963. ... hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  6. POLR3B gene 
    ... J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25. ... hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics