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Details of RareLED ID 2015

Primary information
ID	2015
Disorder	GM1gangliosidis Type II
Inheritance	Autosomal recessive
Organ Affected	Eye,Bones,Nervous System,Liver,Spleen
Onset	Early
Genotype-Phenotype Correlation	p.R148C/p.R68W,p.G579D/p.G579D,p.R148H/frameshift, p.R351X/p.R351X, reported mutations.R68W mutated allele resulted in no GLB1 activity. L436F: early onset , rapidly progressing
Refrences	12644936