| Term Name: | mucosulfatidosis |
|---|---|
| Synonyms: | multiple sulfatase deficiency disease, Sulfatidosis, Juvenile, Austin Type |
| Definition: | A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. |
| Ontology: | Human Disease [DOID:0050441] ( DOID:0050441 ) |