Term Name:	congenital disorder of glycosylation Ij
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.
Ontology:	Human Disease [DOID:0080562]   ( DOID:0080562 )