| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
Congenital disorder of glycosylation 1j [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |