mucosulfatidosis

Details

Instance of

rare disease, type of disease

Subclass of

rare genetic developmental defect during embryogenesis, neurometabolic disease, sphingolipidosis with epilepsy, lysosomal storage disease with skeletal involvement, autosomal ichthyosis syndrome with fatal disease course, rare genetic epilepsy, rare dyslipidemia, developmental anomaly of metabolic origin, sulfatidosis, autosomal recessive disease

genetic association

ARSA, ARSB, SUMF1

health specialty

endocrinology

short name

MSD