Welcome to Entry Card of Lysosomal Disorders
Details of RareLED ID 2028 |
| Primary information | |
|---|---|
| ID | 2028 |
| Disorder | Mucopolysaccharidosis type IIIC |
| Inheritance | Autosomal recessive |
| Organ Affected | Heart,Hair,Muscle,Bones,Nervous System,Lungs,Spleen,Liver,Eye,Ear,Nose |
| Onset | Adult |
| Genotype-Phenotype Correlation | rearrangement in the pericentric region of oneof the two Chromosomes 14 and 21 involved |
| Refrences | 1640438 |