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Results 1 - 3 of 3 for Intellectual "disability," autosomal recessive 45
  1. 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
  2. POMT1 gene 
    ... Biol Chem. 2006 Jul 14;281(28):19339-45. doi: 10.1074/jbc.M601091200. Epub 2006 May 12. Citation on PubMed Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  3. GCH1 gene 
    ... in the levels of these chemicals contribute to intellectual disability in people with GTPCH1 deficiency.Tetrahydrobiopterin deficiency is ... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics