Term Name: hyperphosphatasia with impaired intellectual development syndrome 4
Synonyms: glycosylphosphatidylinositol biosynthesis defect 62, GPIBD62, HPMRS6, hyperphosphatasia with mental retardation syndrome 6
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.
Ontology: Human Disease [DOID:0070436]   ( DOID:0070436 )

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