Details of RareLED ID 2018 |
Primary information | |
---|---|
ID | 2018 |
Disorder | MPS type VII (Sly syndrome) |
Inheritance | Autosomal recessive |
Organ Affected | Ear,Skin,Eye,Heart,Bones,Liver,Lungs,Hair,Nervous System,Kidney,Spleen |
Onset | Early Adult (both) |
Genotype-Phenotype Correlation | Attenuated:p.C38G,p.D152G,p.L176F,p.K350N,p.S52F,p.R110X,p.P148S,p.E150K,Severe:p.K194fsX22,p.R216W,p.L243P,p.S312X,p.Y320S,Pseudodefeciency: p.D152N |
Refrences | 19224584 |