Hyperphosphatasia with intellectual disability syndrome 1

rare

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.

Identifiers: MONDO:0009398 OMIM:239300
Causal genes: PIGV
Part of: Hyperphosphatasia-intellectual disability syndrome
Also known as: HPMRS1 · 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

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