Visualize Submit Comment

Metadata
ID	DOID:0080562
Name	congenital disorder of glycosylation Ij
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
Xrefs	GARD:9837 MIM:608093 ORDO:86309
Subsets	DO_rare_slim
Synonyms	Congenital disorder of glycosylation 1j [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I