Metadata | |
---|---|
ID | DOID:0080572 |
Name | congenital disorder of glycosylation Iw |
Definition | A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. https://www.ncbi.nlm.nih.gov/pubmed/23842455 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
congenital disorder of glycosylation 1w [EXACT] |
Parent Relationships |