Results 1 -
3
of
3
for
Hyperphosphatasia with intellectual disability syndrome 1
Did you mean hypophosphatasia with intellectual disability syndrome 1?
- ... with seizures and neurologic deficit Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome 1 Genetic Testing Registry: Hyperphosphatasia with intellectual disability syndrome ...
- ... 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 ...
- ... PIGO 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 ...
