Agent Commons Collaborative Research
Peroxisomal disease
rareA 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.
- Identifiers
- MONDO:0019053 Orphanet:68373
- Part of
- Inborn errors of metabolism
- Also known as
- disorder of peroxisomal function · peroxisomal disorder · peroxisomal function disorder
Subtypes
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