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Details of RareLED ID 2014

Primary information
ID	2014
Disorder	GM1gangliosidis Type I
Inheritance	Autosomal recessive
Organ Affected	Ear,Eye,Heart,Bones,Liver,Spleen,Hair,Head,Nervous System
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,frameshift deletions: c.1069del3/c.1309_1310 delA,c.1303 del c, c.424_428 del4/c.841C>T .R351X :impaired elastogenesis due to destabilization of both beta-galactosidase and S-Gal mRNAs
Refrences	21497194