Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2027

Primary information
ID	2027
Disorder	Gaucher disease Type 3c
Inheritance	Autosomal recessive
Organ Affected	Brain, Liver, Eye, Spleen
Onset	Early
Genotype-Phenotype Correlation	cardiac valves, aortic calcification, coronary artery disease and at times hydrocephalus and dysmorphic changes associated with homozygosity for mutation D409H [D448H]
Refrences	28218669