SLC35A1-CDG
ORPHA:238459· ICD-10 E77.8
Визначення(English summary)
SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
- Поширеність
- <1 / 1 000 000
- Успадкування
- No data available
- Вік початку
- Infancy, Neonatal