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multiple mitochondrial dysfunctions syndrome 1
Summary
- Synonym
-
- NFU1 deficiency
- Definition
- A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.
- Super Class
- autosomal recessive disease multiple mitochondrial dysfunctions syndrome
External Links
- Disease Ontology
- DOID:0080133
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
