Welcome to Entry Card of Lysosomal Disorders
Details of RareLED ID 2034 |
| Primary information | |
|---|---|
| ID | 2034 |
| Disorder | Batten Disease NCL 1 (CLN1) |
| Inheritance | Autosomal recessive |
| Organ Affected | Nervous System,Bones,Head,Eye |
| Onset | Early Adult (both) |
| Genotype-Phenotype Correlation | 49 mutations currently reported |
| Refrences | 23747979 |