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The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
ORPHA:79323Classification level: Disorder
- CDG syndrome type If
- Carbohydrate deficient glycoprotein syndrome type If
- Congenital disorder of glycosylation type 1f
- Congenital disorder of glycosylation type If
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- OMIM: 609180
- UMLS: C1836669
- MeSH: -
- GARD: 9832
- MedDRA: -
It has been described in four children.
The syndrome is caused by mutations in the MPDU1 gene, localised to the p13.1-p12 region of chromosome 17.
- Clinical genetics review
- English (2017)