Sphingolipid activator protein 1 deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Metachromatic Leukodystrophy due to Saposin B Deficiency | C0268262 | PSAP | Causal Pathogenic evidence from ClinVar | 2019586, 2302219, 2320574, 10196694, 10682309, 17919309, 24357685, 27604308, 30632081 | ClinVar |