Human genes for mucosulfatidosis
Mucosulfatidosis [DOID:0050441]
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.
Synonyms: mucosulfatidosis, DOID:0050441, mucosulfatidosises, Sulfatidosis, Juvenile, Austin Type, multiple sulfatase deficiency disease ...
Linkouts: OMIM