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Diseases
METABOLISM OF HETEROCYCLIC COMPOUNDS
16 Disorders of nucleobase, nucleotide and nucleic acid metabolism
16.4 Disorders of non-mitochondrial tRNA processing and aminoacyl-tRNA synthetases
16.4.1 Disorders of non-mitochondrial tRNA processing
tRNA splicing endonuclease subunit 2 deficiency
tRNA splicing endonuclease subunit 15 deficiency
tRNA splicing endonuclease subunit 34 deficiency
tRNA splicing endonuclease subunit 54 deficiency
CLP1 deficiency
tRNA methyltransferase 10A deficiency
tRNA methyltransferase 1 deficiency
DALRD3 deficiency
FTSJ RNA 2’-O-methyltransferase 1 deficiency
NSUN2 deficiency
tRNA-specific adenosine deaminase 3 deficiency
Elongator complex protein 1 deficiency
Elongator complex protein 2 deficiency
Cytosolic thyouridylase subunit 2 deficiency
tRNA N4-acetylcytidine transferase deficiency
Galloway-Mowat syndrome
Galloway-Mowat syndrome, type 1
Galloway-Mowat syndrome type 2
Galloway-Mowat syndrome type 3
Galloway-Mowat syndrome type 4
Galloway-Mowat syndrome type 5
Galloway-Mowat syndrome type 6
Galloway-Mowat syndrome type 7
Galloway-Mowat syndrome type 8
Galloway-Mowat syndrome type 9
Galloway-Mowat syndrome, type 10
Pseudouridine synthase 3 deficiency
AIMP1/p43 deficiency
AIMP2/p38 deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
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Home
Diseases
METABOLISM OF HETEROCYCLIC COMPOUNDS
16 Disorders of nucleobase, nucleotide and nucleic acid metabolism
16.4 Disorders of non-mitochondrial tRNA processing and aminoacyl-tRNA synthetases
16.4.1 Disorders of non-mitochondrial tRNA processing
tRNA splicing endonuclease subunit 2 deficiency
tRNA splicing endonuclease subunit 15 deficiency
tRNA splicing endonuclease subunit 34 deficiency
tRNA splicing endonuclease subunit 54 deficiency
CLP1 deficiency
tRNA methyltransferase 10A deficiency
tRNA methyltransferase 1 deficiency
DALRD3 deficiency
FTSJ RNA 2’-O-methyltransferase 1 deficiency
NSUN2 deficiency
tRNA-specific adenosine deaminase 3 deficiency
Elongator complex protein 1 deficiency
Elongator complex protein 2 deficiency
Cytosolic thyouridylase subunit 2 deficiency
tRNA N4-acetylcytidine transferase deficiency
Galloway-Mowat syndrome
Galloway-Mowat syndrome, type 1
Galloway-Mowat syndrome type 2
Galloway-Mowat syndrome type 3
Galloway-Mowat syndrome type 4
Galloway-Mowat syndrome type 5
Galloway-Mowat syndrome type 6
Galloway-Mowat syndrome type 7
Galloway-Mowat syndrome type 8
Galloway-Mowat syndrome type 9
Galloway-Mowat syndrome, type 10
Pseudouridine synthase 3 deficiency
AIMP1/p43 deficiency
AIMP2/p38 deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
DALRD3 deficiency
Synonym(s)
Early infantile epileptic encephalopathy type 86
Type
Disease
External link(s)
IEMbase
Gene
DALRD3
/ DALRD3
3p21.31
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
N/A
Disease group(s)
16.4.1 Disorders of non-mitochondrial tRNA processing