| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (Human Disease Ontology, DOID_10581) |
| External Link | http://www.omim.org/entry/250100 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the Metachromatic leukodystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| ARSA | arylsulfatase A |
