Hyperphosphatasia with intellectual disability syndrome 1

Any 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.