Welcome to Entry Card of Lysosomal Disorders
Details of RareLED ID 2025 |
| Primary information | |
|---|---|
| ID | 2025 |
| Disorder | Gaucher disease Type 2 |
| Inheritance | Autosomal recessive |
| Organ Affected | Eye, Nervous System, Spleen, Lungs |
| Onset | Early |
| Genotype-Phenotype Correlation | hepatosplenomegaly and central nervous system involvement within the first year of life,There is no bone involvement in GD2 |
| Refrences | 28218669 25345088 |