hyperphosphatasia with impaired intellectual development syndrome 5 (DOID:0070432)
Alliance: disease page
Synonyms: glycosylphosphatidylinositol biosynthesis defect 11; GPIBD11; HPMRS5; hyperphosphatasia with mental retardation syndrome 5
Alt IDs: OMIM:616025
Definition: A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12.