Welcome to Entry Card of Lysosomal Disorders
Details of RareLED ID 2016 |
| Primary information | |
|---|---|
| ID | 2016 |
| Disorder | GM1gangliosidis Type III |
| Inheritance | Autosomal recessive |
| Organ Affected | Eye,Bones,Nervous System,Liver,Spleen,Muscle |
| Onset | Adult |
| Genotype-Phenotype Correlation | mildest phenotype of the disease, with onset between 3 and 30 years, p.G438E/p.G438E , p.W92X/R442Q |
| Refrences | 21497194 |