congenital disorder of glycosylation Ir (DOID:0080569)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1r
Alt IDs: OMIM:614507, ORDO:300536
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.