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Hyperphosphatasia with intellectual disability syndrome 6
Did you mean hypophosphatasia with intellectual disability syndrome 6?
- ... with intellectual disability syndrome 3 Genetic Testing Registry: Hyperphosphatasia-intellectual disability syndrome National Organization for Rare Disorders (NORD) HYPERPHOSPHATASIA WITH ...
- ... 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 ...
