eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | sandhoff disease |
| Comorbidity | C0085084|motor neuron disease |
| Sentences | 1 |
| PubMedID- 23127958 | The adult form of sandhoff disease with the motor neuron disease phenotype is a rare neurodegenerative disorder caused by mutations in hexb encoding the beta-subunit of beta-hexosaminidase, yet the properties of mutant beta-subunits of the disease have not been fully determined. |
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