| Metadata | |
|---|---|
| ID | DOID:0080563 |
| Name | congenital disorder of glycosylation Ik |
| Definition | A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation, https://www.ncbi.nlm.nih.gov/pubmed/28108845 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital disorder of glycosylation 1k [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 |