Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2008

Primary information
ID	2008
Disorder	Schindler disease (type I)
Inheritance	Autosomal recessive
Organ Affected	Eye,Bones,Nervous System, ,Muscle
Onset	Early
Genotype-Phenotype Correlation	E325K mutation altered the enzyme polypeptide and tertiary conformation
Refrences	2243144