Term Name: | multiple mitochondrial dysfunctions syndrome 3 |
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Synonyms: | IBA57 deficiency |
Definition: | A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. |
Ontology: | Human Disease [DOID:0080135] ( DOID:0080135 ) |