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retinal dystrophy with leukodystrophy
Summary
- Synonym
-
- ACBD5 deficiency
- Definition
- A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12.
- Super Class
- autosomal recessive disease peroxisomal disease
External Links
- Disease Ontology
- DOID:0080946
- Mondo Disease Ontology
- OMIM
