mucosulfatidosis

info · Genetic · ICD-10: E75.26

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.

Signs and symptoms

Corneal opacity
Large forehead
Hearing impairment
Short stature
Anteverted nares
Cerebellar atrophy
Ataxia
Hepatomegaly
Coarse facial features
Flat face

Also known as: Sulfatidosis, Juvenile, Austin Type; multiple sulfatase deficiency disease