GTR Home > Conditions/Phenotypes > Sandhoff disease

Summary

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (272800). [from OMIM]

Available tests

41 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

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  • Cardiomegaly
  • Hyperhidrosis
  • Orthostatic hypotension
  • Splenomegaly
  • Muscle weakness
  • Hyperreflexia
  • Hypohidrosis
  • Dysarthria
  • Kyphosis
  • Coarse facial features
  • Cognitive impairment
  • Progressive psychomotor deterioration
  • Amyotrophy
  • Incoordination
  • Recurrent respiratory infections
  • Full cheeks
  • Seizure
  • Impotence
  • Cherry red spot of the macula
  • Macrocephaly
  • Urinary incontinence
  • Macroglossia
  • Hearing impairment
  • Visual impairment
  • Blindness
  • Abnormality of the macula
  • Ataxia
  • Hepatosplenomegaly
  • Congestive heart failure
  • Abnormality of metabolism/homeostasis
  • Chronic diarrhea
  • Hepatomegaly
  • Fasciculations
  • Episodic abdominal pain
  • Skeletal dysplasia
  • Abnormality of glycosphingolipid metabolism
  • Impaired thermal sensitivity
  • Abnormality of movement
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