ZFIN Human Disease: congenital disorder of glycosylation Ij

OBO ID: DOID:0080562

Term Name:	congenital disorder of glycosylation Ij		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation type I autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

OTHER congenital disorder of glycosylation Ij PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DPAGT1	dpagt1	Congenital disorder of glycosylation, type Ij	608093

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None