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Results 1 - 3 of 3 for Hyperphosphatasia with mental retardation syndrome 2
Did you mean hypophosphatasia with mental retardation syndrome 2?
  1. Mabry syndrome 
    ... with intellectual disability syndrome 1 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome 2 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  2. PIGV gene 
    ... P-Man dependent GPI mannosyltransferase FLJ20477 GPI mannosyltransferase 2 GPI mannosyltransferase II GPI-MT-II HPMRS1 phosphatidylinositol glycan ... P, Mannhardt A, Korenke GC, Meinecke P. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am ...
    https://medlineplus.gov/genetics/gene/pigv - Genetics
  3. PGAP2 gene 
    ... mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Am J Hum Genet. 2013 Apr 4;92( ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics