Welcome to Entry Card of Lysosomal Disorders

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