congenital disorder of glycosylation Ij

Term ID

DOID:0080562

Synonyms

• Congenital disorder of glycosylation 1j

Definition

A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/12872255

References

• GARD:9837
• OMIM:608093
• ORDO:86309

Ontology

Human Disease   ( DOID:0080562 )