<unk>  may be diagnosed when deficiency of more than one<unk>  enzyme is identified in leukocytes or fibroblasts, or by molecular genetic testing which shows pathogenic variation in both alleles of the SUMF1 gene.
Multiple sulfatase deficiency
Beta-ketothiolase deficiency
17β-Hydroxysteroid dehydrogenase III deficiency
5α-Reductase 2 deficiency
Mevalonate kinase deficiency
Prolidase deficiency
Cortisone reductase deficiency
Pure hair-nail type ectodermal dysplasia