Peroxisomal disease
Peroxisomal disease
Definition
A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.
Also known as disorder of peroxisomal function, peroxisomal disease, peroxisomal disorder, peroxisomal function disorder — per MONDO