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The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.
ORPHA:95428Classification level: Disorder
- CDG syndrome type IIh
- Carbohydrate deficient glycoprotein syndrome type IIh
- Congenital disorder of glycosylation type 2h
- Congenital disorder of glycosylation type IIh
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: E77.8
- OMIM: 611182
- UMLS: C1970021
- MeSH: -
- GARD: 12411
- MedDRA: -
So far, only two cases have been described.
The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.
- Clinical genetics review
- English (2017)