Term Name: hyperphosphatasia with impaired intellectual development syndrome 6
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 )

Relationships
is a type of: hyperphosphatasia with impaired intellectual development syndrome