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hyperphosphatasia with impaired intellectual development syndrome 4
Summary
- Synonym
-
- GPIBD62
- HPMRS6
- glycosylphosphatidylinositol biosynthesis defect 62
- hyperphosphatasia with mental retardation syndrome 6
- Definition
- A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12.
- Super Class
- hyperphosphatasia with impaired intellectual development syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96FM1 | Post-GPI attachment to proteins factor 3 |
