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Human Disease

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
Ontology
Human Disease   ( DOID:0080562 )
Relationships
is a type of
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Genes Involved
Zebrafish Models