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multiple mitochondrial dysfunctions syndrome 3
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease multiple mitochondrial dysfunctions syndrome
External Links
- Disease Ontology
- DOID:0080135
- Mondo Disease Ontology
- ORDO
- OMIM
