Hyperphosphatasia with intellectual disability syndrome 3
Hyperphosphatasia with intellectual disability syndrome 3
Definition
Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.
Also known as hyperphosphatasia with intellectual disability syndrome 3, hyperphosphatasia with intellectual disability syndrome type 3, hyperphosphatasia with mental retardation syndrome 3, hyperphosphatasia with mental retardation syndrome type 3, hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2, PGAP2 hyperphosphatasia-intellectual disability syndrome — per MONDO