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Results 1 - 10 of 17 for Intellectual "disability," autosomal recessive 10
  1. PGAP2 gene 
    ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Citation on ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics
  2. 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 ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  3. PYCR1 gene 
    ... usual. Some affected individuals also have delayed development, intellectual ... called autosomal recessive cutis laxa type 3B (ARCL3B, which is also ...
    https://medlineplus.gov/genetics/gene/pycr1 - Genetics
  4. 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
  5. ATP6V0A2 gene 
    ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  6. 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
  7. 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.ajhg.2015.11.004. Epub 2015 ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  8. CLPB gene 
    ... mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  9. POLR3A gene 
    ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011.10.003. Epub 2011 ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  10. POLR3B gene 
    ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011.10.003. Epub 2011 ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
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