Welcome to Entry Card of Lysosomal Disorders


Details of RareLED ID 2030
Primary information
ID2030
DisorderMPS type II (Hunter syndrome)
InheritanceX-linked recessive
Organ AffectedKidney,Head,Nose,Bones,Skin,Teeth,,Liver,Lungs,Hair,Spleen,Nervous System
OnsetEarly
Genotype-Phenotype Correlationpresence 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
Refrences30442161