Hyperphosphatasia with intellectual disability syndrome 6
Hyperphosphatasia with intellectual disability syndrome 6
Definition
Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.
Also known as HPMRS6, hyperphosphatasia with intellectual disability syndrome 6, hyperphosphatasia with intellectual disability syndrome 6; HPMRS6, hyperphosphatasia with intellectual disability syndrome type 6, hyperphosphatasia with mental retardation syndrome 6, hyperphosphatasia with mental retardation syndrome type 6, hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY, PIGY hyperphosphatasia-intellectual disability syndrome — per MONDO