hyperphosphatasia with impaired intellectual development syndrome 4 (DOID:0070436)
Alliance: disease page
Synonyms: glycosylphosphatidylinositol biosynthesis defect 62; GPIBD62; HPMRS6; hyperphosphatasia with mental retardation syndrome 6
Alt IDs: OMIM:615716
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.