Hyperphosphatasia with intellectual disability syndrome 1
MONDO:0009398Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.
Also known as: PIGV hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia with intellectual disability syndrome 1, hyperphosphatasia with intellectual disability syndrome type 1, hyperphosphatasia with mental retardation syndrome 1, hyperphosphatasia with mental retardation syndrome type 1, hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV, HPMRS1, Mabry syndrome
1 clinical trial for this condition and its sub-types, 0 tagged with Hyperphosphatasia with intellectual disability syndrome 1 itself.
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