MPDU1-CDG
What is MPDU1-CDG?
A rare disorder of multiple-pathway glycosylation characterised by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies.
Other condition names
- CDG syndrome type If
- CDG-If
- CDG1F
- Carbohydrate deficient glycoprotein syndrome type If
- Congenital disorder of glycosylation type 1f
- Congenital disorder of glycosylation type If
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Infancy
- Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.