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myopathy, lactic acidosis, and sideroblastic anemia 2
Summary
- Synonym
-
- MLASA2
- Definition
- A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.
- Super Class
- myopathy, lactic acidosis, and sideroblastic anemia
External Links
- Disease Ontology
- DOID:0111186
- Mondo Disease Ontology
- OMIM
