Hyperphosphatasia with intellectual disability syndrome 2
MONDO:0013882Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.
Also known as: PIGO hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia with intellectual disability syndrome 2, hyperphosphatasia with intellectual disability syndrome type 2, hyperphosphatasia with mental retardation syndrome 2, hyperphosphatasia with mental retardation syndrome type 2, hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO, HPMRS2, glycosylphosphatidylinositol biosynthesis defect 6
1 clinical trial for this condition and its sub-types.
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