Rajab interstitial lung disease with brain calcifications 2
RILDBC2
An autosomal recessive disorder characterized by interstitial lung disease, growth delay, hypotonia, liver disease, and brain abnormalities including diffuse, symmetrical brain calcifications and periventricular cysts.
None
The disease may be caused by variants affecting the gene represented in this entry.
Belongs to the class-II aminoacyl-tRNA synthetase family. Phe-tRNA synthetase alpha subunit type 2 subfamily.
FARS, FARSL, FARSLA, FARSA, Phenylalanine--tRNA ligase alpha subunit, CML33, Phenylalanyl-tRNA synthetase alpha subunit, PheRS
Proteins
57564Da
We found 1 product in 1 category