OnlineIMD
tRNA splicing endonuclease subunit 34 deficiency
Synonym(s)
Pontocerebellar hypoplasia type 2C
Type
Disease
External link(s)
IEMbase
Gene
TSEN34
/ TSEN34
19q13.42
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
tRNA splicing endonuclease subunit 34
Disease group(s)
16.4.1 Disorders of non-mitochondrial tRNA processing