OnlineIMD
Mitochondrial elongation factor Tu deficiency
Synonym(s)
Combined oxidative phosphorylation deficiency type 4
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
TUFM
/ Mitochondrial Translation Elongation Factor, Tu Family Member
16p11.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Mitochondrial translation elongation factor Tu
Disease group(s)
10.3.2 Disorders of mitoribosome modification and assembly