Term Name:	multiple mitochondrial dysfunctions syndrome 1
Synonyms:	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.
Ontology:	Human Disease [DOID:0080133]   ( DOID:0080133 )