OnlineIMD
Elongator complex protein 1 deficiency
Synonym(s)
familial dysautonomia
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
ELP1
/ Elongator Complex Protein 1
9q31.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Elongator complex protein 1
Disease group(s)
16.4.1 Disorders of non-mitochondrial tRNA processing