has material basis in germline mutation in SUMF1 integumentary system disorder mucosulfatidosis https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6749 https://www.malacards.org/card/multiple_sulfatase_deficiency SCTID:54898003 NANDO:1200624 MSD NCIT:C84908 GARD:0005061 MONDO:0010088 Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. icd11.foundation:848083807 DOID:0050441 multiple sulfatase deficiency disease MESH:D052517 multiple sulfatase deficiency sulfatidosis, juvenile, Austin type Multiple Sulfatase Deficiency juvenile sulfatidosis, Austin type Orphanet:585 juvenile sulfatidosis NORD:1471 NANDO:1200083 OMIM:272200 MEDGEN:75664 NANDO:2200566 sulfatidosis juvenile, Austin type mucosulfatidosis UMLS:C0268263 developmental anomaly of metabolic origin sphingolipidosis lysosomal storage disease with skeletal involvement