Term Name: | congenital disorder of glycosylation Ir |
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Synonyms: | congenital disorder of glycosylation 1r |
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. |
Ontology: | Human Disease [DOID:0080569] ( DOID:0080569 ) |