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Results 1 - 3 of 3 for Hyperphosphatasia with intellectual disability syndrome 3
Did you mean hypophosphatasia with intellectual disability syndrome 3?
  1. PIGO gene 
    ... be available when it is needed. ... in the blood (hyperphosphatasia), and other signs and symptoms. These mutations change ...
    https://medlineplus.gov/genetics/gene/pigo - Genetics
  2. PGAP2 gene 
    ... to cause Mabry syndrome. The features of Mabry syndrome include intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. These mutations change ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics
  3. PIGV gene 
    ... PIGV gene have been found to cause Mabry syndrome, a condition characterized by intellectual disability, distinctive facial features, increased levels of an enzyme called alkaline phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. These mutations change ...
    https://medlineplus.gov/genetics/gene/pigv - Genetics