Term Name: myopathy, lactic acidosis, and sideroblastic anemia 2
Synonyms: 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.
Ontology: Human Disease [DOID:0111186]   ( DOID:0111186 )

Relationships
is a type of: myopathy, lactic acidosis, and sideroblastic anemia