Hyperphosphatasia with intellectual disability syndrome 4

rare

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.

Identifiers: MONDO:0014318 OMIM:615716
Causal genes: PGAP3
Part of: Hyperphosphatasia-intellectual disability syndrome
Also known as: HPMRS4 · hyperphosphatasia with intellectual disability syndrome type 4 · hyperphosphatasia with mental retardation syndrome 4 · hyperphosphatasia with mental retardation syndrome type 4 · hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3

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