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DDOST-CDG
Disease definition
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
ORPHA:300536
Classification level: Disorder- Synonym(s):
- CDG syndrome type Ir
- CDG-Ir
- CDG1R
- Carbohydrate deficient glycoprotein syndrome type Ir
- Congenital disorder of glycosylation type 1r
- Congenital disorder of glycosylation type Ir
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- OMIM: 614507
- UMLS: -
- MeSH: -
- GARD: 12398
- MedDRA: -
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