Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2020

Primary information
ID	2020
Disorder	GM2gangliosidosis type II (Sandhoff disease) (HEX B)
Inheritance	Autosomal recessive
Organ Affected	Nervous System,Lungs,Eye,Muscle,Skin
Onset	Early
Genotype-Phenotype Correlation	c.1538 T > C , c.299 + 5 G > A mutation, which was a splice site mutation: cardiac involvement
Refrences	27697305