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Results 1 - 3 of 3 for Hyperphosphatasia with mental retardation syndrome 1
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  1. Mabry syndrome 
    ... with seizures and neurologic deficit Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome 1 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  2. 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
  3. PIGO gene 
    ... member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012. ...
    https://medlineplus.gov/genetics/gene/pigo - Genetics