Hyperphosphatasia with intellectual disability syndrome 5
Hyperphosphatasia with intellectual disability syndrome 5
Definition
Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.
Also known as hyperphosphatasia with intellectual disability syndrome 5, hyperphosphatasia with intellectual disability syndrome type 5, hyperphosphatasia with mental retardation syndrome 5, hyperphosphatasia with mental retardation syndrome type 5, hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW, PIGW hyperphosphatasia-intellectual disability syndrome — per MONDO