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Hyperphosphatasia with intellectual disability syndrome 2
Did you mean hypophosphatasia with intellectual disability syndrome 2?
- ... with intellectual disability syndrome 1 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome 2 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome ...
- ... PIGV gene have been found to cause Mabry syndrome, a condition ... the GPI mannosyltransferase 2 enzyme. The altered protein is less able to ...
- ... 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 ...
