The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

Sandhoff Disease

Prevalence: 1/300000

lysosomal

Official·OMIM:268800 Official·ORPHA309155

Hexosaminidase A and B deficiency due to HEXB gene mutations.

Associated Genes

HEXBHexosaminidase Subunit Beta

Chromosome 5Autosomal Recessive