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Results 1 - 5 of 5 for Causal
  1. Mucolipidosis II alpha/beta 
    ... Vezina H, Laprise C. Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene ( ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  2. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... H. HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  3. Kidney stones 
    ... Urolithiasis: A Systematic Review of the Literature and Causal Network Analysis. Eur Urol Focus. 2017 Feb;3( ...
    https://medlineplus.gov/genetics/condition/kidney-stones - Genetics
  4. CASK-related intellectual disability 
    ... interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus. Hum Mol Genet. ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  5. MBD5-associated neurodevelopmental disorder 
    ... 1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum ...
    https://medlineplus.gov/...d5-associated-neurodevelopmental-disorder - Genetics