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Results 1 - 1 of 1 for Hyperphosphatasia with intellectual disability syndrome 4
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  1. 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