OnlineIMD
GUF1 deficiency
Synonym(s)
Early infantile epileptic encephalopathy 4
Type
Disease
External link(s)
IEMbase
Gene
GUF1
/ GUF1
4p12
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
GTPase of immunity-associated protein 1
Disease group(s)
10.3.2 Disorders of mitoribosome modification and assembly