Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2010

Primary information
ID	2010
Disorder	Schindler disease(type III)
Inheritance	Autosomal recessive
Organ Affected	Eye,Bones, Nervous System,Muscle
Onset	Adult
Genotype-Phenotype Correlation	E367K substitution found in type III patients presents a paradox. The E367 side chain is solvent exposed and the replacement of one surface-exposed charge for another is typically well tolerated by proteins,intermediate disorder with mild to moderate neurological manifestations
Refrences	19683538