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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 07-02-2009
Symbol HEXB
Location 5q13.3
Name Sandhoff disease
Other name(s) GM2 gangliosidosis II (HEXA & B deficiency)
Corresponding gene HEXB
related resource HEXB Locus Database
Main clinical features
  • adult, juvenile and infantile type, gait disorder, ataxia and other cerebellar features, including intention tremor and dysarthria, bulbar weakness and poor volition caused weight loss
  • Genetic determination autosomal recessive
    Related entries including any cases of spinal muscular atrophy, juvenile
    Function/system disorder metabolism/lysosomal
    Type disease
    Gene product
    Name hexosaminidases A & B, beta polypeptide (HEXB)