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myopathy, lactic acidosis, and sideroblastic anemia 3

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A rare mitochondrial disorder characterized by sideroblastic anemia, muscle weakness, and exercise intolerance associated with persistent lactic acidemia. Additional MLASA3 features are failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay.
Mondo Term and Equivalent IDs
MONDO:0010782:  myopathy, lactic acidosis, and sideroblastic anemia 3
DOID:0111184: 
UMLS:C4225415: