congenital disorder of glycosylation Ir

Term ID

DOID:0080569

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. https://www.ncbi.nlm.nih.gov/pubmed/22305527

References

• GARD:12398
• OMIM:614507
• ORDO:300536

Ontology

Human Disease   ( DOID:0080569 )