multiple mitochondrial dysfunctions syndrome 1 (DOID:0080133)
Alliance: disease page
Synonyms: NFU1 deficiency
Alt IDs: OMIM:605711, ORDO:401869
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.