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Results 1 - 2 of 2 for Hyperphosphatasia with intellectual disability syndrome 5
Did you mean hypophosphatasia with intellectual disability syndrome 5?
  1. PGAP2 gene 
    ... to the fat-rich cell membrane. ... in the blood (hyperphosphatasia), and other signs and symptoms. These mutations change ...
    https://medlineplus.gov/genetics/gene/pgap2 - Genetics
  2. Mabry syndrome 
    ... with intellectual disability syndrome 3 Genetic Testing Registry: Hyperphosphatasia-intellectual disability syndrome National Organization for Rare Disorders (NORD) HYPERPHOSPHATASIA WITH ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics