Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2021

Primary information
ID	2021
Disorder	GM2gangliosidosis, AB variant (Tay-Sachs disease, GM2-Activator )
Inheritance	Autosomal recessive
Organ Affected	Nervous System,Eye,Muscle
Onset	Early
Genotype-Phenotype Correlation	a three base deletion, AAG262-264,resulting in a deletion of Lys88, and a single-base deletion, A410, that causes a frameshift. The latter results in substitution of 33 amino acids and the loss of another 24 amino acid residues
Refrences	8900233