OnlineIMD
Phenylalanyl-tRNA synthetase subunit beta deficiency
Synonym(s)
Rajab interstitial lung disease with brain calcifications type 1
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
FARSB
/ Fatty Acyl-CoA Reductase Small Subunit
2q36.1
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Fatty acyl-CoA reductase small subunit
Disease group(s)
16.4.2 Disorders of non-mitochondrial aminoacyl-tRNA synthetases