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Hyperphosphatasia with intellectual disability syndrome 3

MONDO:0013628

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.

Also known as: PGAP2 hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia with intellectual disability syndrome 3, hyperphosphatasia with intellectual disability syndrome type 3, hyperphosphatasia with mental retardation syndrome 3, hyperphosphatasia with mental retardation syndrome type 3, hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2, HPMRS3, glycosylphosphatidylinositol biosynthesis defect 8

1 clinical trial for this condition and its sub-types, 0 tagged with Hyperphosphatasia with intellectual disability syndrome 3 itself.

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