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Results 1 - 3 of 3 for Intellectual "disability," autosomal recessive 28
  1. ... variants cause a form of the disorder called autosomal recessive cutis laxa type 2A ... disability, seizures, or problems with movement that can worsen ...
  2. ... 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 ...
  3. ... 2. J 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 ...