Welcome to Entry Card of Lysosomal Disorders


Details of RareLED ID 2026
Primary information
ID2026
DisorderGaucher disease Type 3
InheritanceAutosomal recessive 
Organ AffectedBrain, Liver, Eye, Spleen
OnsetEarly
Genotype-Phenotype Correlationnervous system involvement in childhood,abnormal eye movements and myoclonic epilepsy
Refrences28218669 25345088