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Results 1 - 10 of 15 for Mental "retardation," autosomal recessive 1
  1. POMT1 gene 
    ... and functional association of human protein O-mannosyltransferases 1 and 2. J ... mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  2. 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
  3. 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
  4. UNC80 gene 
    ... of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am J Hum Genet. 2016 Jan 7;98(1):210-5. doi: 10.1016/j.ajhg.2015. ...
    https://medlineplus.gov/genetics/gene/unc80 - Genetics
  5. ATP6V0A2 gene 
    ... HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet. 2008 Jan;16(1):28-35. doi: 10.1038/sj.ejhg.5201947. ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  6. RELN gene 
    ... Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246. Erratum In: ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  7. 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
  8. 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
  9. TMCO1 gene 
    ... TMCO1 PubMed ... E, Sagiroglu MS, Yuksel B, Boduroglu K, Akarsu NA. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia. Am J Med Genet A. 2014 ...
    https://medlineplus.gov/genetics/gene/tmco1 - Genetics
  10. POLR3A gene 
    ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
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