SLC35A1-CDG
ORPHA:238459· ICD-10 E77.8
Definition
SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
- Prevalence
- <1 / 1 000 000
- Inheritance
- No data available
- Age of onset
- Infancy, Neonatal