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Results 1 - 10 of 11 for Intellectual "disability," autosomal recessive 9
  1. PGAP2 gene 
    ... PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics
  2. 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
  3. 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
  4. 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
  5. 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. ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  6. RELN gene 
    ... Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly ... Int J Biochem Cell Biol. 2012 Sep;44(9):1501-4. doi: 10.1016/j.biocel.2012. ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  7. CLPB gene 
    ... Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813-0. Epub 2015 Jan ... disorder with cataract, neutropenia, epilepsy, and methylglutaconic ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  8. GCH1 gene 
    ... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and ... 2009 Feb 9. Citation on PubMed Muller U, Steinberger D, Topka ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  9. POLR3A gene 
    ... symptoms of Pol III-related leukodystrophy, which include intellectual disabilities and difficulty with coordination and balance (ataxia). Development ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  10. TMCO1 gene 
    ... facio-thoracic dysplasia, which is characterized by severe intellectual disability, distinctive facial features, and bone abnormalities that primarily ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
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