mucosulfatidosis
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.
MONDO:0002051
integumentary system disorder
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0019255
sphingolipidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
MSD
exact
Multiple Sulfatase Deficiency
exact
juvenile sulfatidosis
related
juvenile sulfatidosis, Austin type
exact
mucosulfatidosis
exact
multiple sulfatase deficiency
related
multiple sulfatase deficiency disease
exact
sulfatidosis juvenile, Austin type
related
sulfatidosis, juvenile, Austin type
exact