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 )

Relationships
is a type of: autosomal recessive disease sphingolipidosis