hyperphosphatasia with impaired intellectual development syndrome 6

Term ID

DOID:0070437

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. https://pubmed.ncbi.nlm.nih.gov/26293662/

References

• OMIM:616809

Ontology

Human Disease   ( DOID:0070437 )