Term Name:	myopathy, lactic acidosis, and sideroblastic anemia 3
Synonyms:	MLASA3
Definition:	A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome.
Ontology:	Human Disease [DOID:0111184]   ( DOID:0111184 )