Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.
Comprehensive, easy-to-understand information about this condition
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hyperphosphatasia with intellectual disability syndrome 1
MONDO:0009398
hyperphosphatasia with intellectual disability syndrome 2
MONDO:0013882
hyperphosphatasia with intellectual disability syndrome 4
MONDO:0014318
hyperphosphatasia with intellectual disability syndrome 5
MONDO:0014457
hyperphosphatasia with intellectual disability syndrome 6
MONDO:0014780