OnlineIMD
ERAL1 deficiency
Synonym(s)
Perrault syndrome type 6
Type
Disease
External link(s)
IEMbase
Gene
ERAL1
/ ERA Like 12S Mitochondrial Ribosome Assembly GTPase
17q11.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
ERA Like 12S Mitochondrial Ribosome Assembly GTPase
Disease group(s)
10.3.2 Disorders of mitoribosome modification and assembly