hyperphosphatasia with impaired intellectual development syndrome 6 (DOID:0070437)
Alliance: disease page
Synonyms: glycosylphosphatidylinositol biosynthesis defect 40; GPIBD40; HPMRS4; hyperphosphatasia with mental retardation syndrome 4
Alt IDs: OMIM:616809
Definition: A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22.