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The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
ORPHA:79322Classification level: Disorder
- CDG syndrome type Ie
- Carbohydrate deficient glycoprotein syndrome type Ie
- Congenital disorder of glycosylation type 1e
- Congenital disorder of glycosylation type Ie
- Dol-P-mannosyltransferase deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- OMIM: 608799
- UMLS: C1837396
- MeSH: -
- GARD: 9831
- MedDRA: -
The syndrome has been described in seven children.
It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1.
- Clinical genetics review
- English (2017)