Term Name: | hyperphosphatasia with impaired intellectual development syndrome 6 |
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Synonyms: | glycosylphosphatidylinositol biosynthesis defect 40, GPIBD40, HPMRS4, hyperphosphatasia with mental retardation syndrome 4 |
Definition: | A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. |
Ontology: | Human Disease [DOID:0070437] ( DOID:0070437 ) |