hyperphosphatasia with impaired intellectual development syndrome 4

Term ID

DOID:0070436

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. https://pubmed.ncbi.nlm.nih.gov/24439110/

References

• OMIM:615716

Ontology

Human Disease   ( DOID:0070436 )