Welcome to Entry Card of Lysosomal Disorders
Details of RareLED ID 2042 |
| Primary information | |
|---|---|
| ID | 2042 |
| Disorder | Salla disease (Sialin) |
| Inheritance | Autosomal recessive |
| Organ Affected | Nystagmus, hypotonia, cognitive impairment, Eye,Poor eye contact, ataxia associated to general muscle hypotony are the first signs |
| Onset | Early |
| Genotype-Phenotype Correlation | Finnish SD patients are homozygous for R39C |
| Refrences | 26171070 |