Term Name: | hyperphosphatasia with impaired intellectual development syndrome 4 |
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Synonyms: | glycosylphosphatidylinositol biosynthesis defect 62, GPIBD62, HPMRS6, 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. |
Ontology: | Human Disease [DOID:0070436] ( DOID:0070436 ) |