Details of RareLED ID 2030 |
| Primary information | |
|---|---|
| ID | 2030 |
| Disorder | MPS type II (Hunter syndrome) |
| Inheritance | X-linked recessive |
| Organ Affected | Kidney,Head,Nose,Bones,Skin,Teeth,,Liver,Lungs,Hair,Spleen,Nervous System |
| Onset | Early |
| Genotype-Phenotype Correlation | presence of the pseudogene IDS2( in opposite oreintation) renders molecular diagnosis more difficult to perform.A female MPS II patient may be due to a balanced reciprocal translocation involving one X chromosome, coupled with a skewed XCI of the normal X chromosome |
| Refrences | 30442161 |