OnlineIMD
NFU1 deficiency
Synonym(s)
Multiple mitochondrial dysfunctions syndrome type 1
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
NFU1
/ NFU1 iron-sulfur cluster scaffold
2p13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Iron-sulfur cluster scaffold protein NFU1, mitochondrial
Disease group(s)
8.2 Disorders of lipoic acid and iron-sulfur metabolism