Metadata | |
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ID | DOID:0080569 |
Name | congenital disorder of glycosylation Ir |
Definition | A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/22305527 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
congenital disorder of glycosylation 1r [EXACT] |
Parent Relationships |