Welcome to Entry Card of Lysosomal Disorders
Details of RareLED ID 2009 |
| Primary information | |
|---|---|
| ID | 2009 |
| Disorder | Kanzaki disease(type II) |
| Inheritance | Autosomal recessive |
| Organ Affected | Skin,Hair,Eye,Nervous System,Nose,Ear,Muscle |
| Onset | Adult |
| Genotype-Phenotype Correlation | E193X forms a Stop codon, R329W,R329Q Disrupts hydrophobic core |
| Refrences | 19683538 |