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Diseases
INTERMEDIARY METABOLISM: ENERGY
10 Disorders of mitochondrial gene expression
10.3 Disorders of the mitoribosome
10.3.1 Mitoribosome subunit deficiencies
Mitochondrial ribosomal large subunit 3 deficiency
Mitochondrial ribosomal large subunit 12 deficiency
Mitochondrial ribosomal large subunit 24 deficiency
Mitochondrial ribosomal large subunit 39 deficiency
Mitochondrial ribosomal large subunit 44 deficiency
Mitochondrial ribosomal large subunit 49 deficiency
Mitochondrial ribosomal small subunit 2 deficiency
Mitochondrial ribosomal small subunit 7 deficiency
Mitochondrial ribosomal small subunit 14 deficiency
Mitochondrial ribosomal small subunit 16 deficiency
Mitochondrial ribosomal small subunit 22 deficiency
Mitochondrial ribosomal small subunit 23 deficiency
Mitochondrial ribosomal small subunit 25 deficiency
Mitochondrial ribosomal small subunit 28 deficiency
Mitochondrial ribosomal small subunit 29 deficiency
Mitochondrial ribosomal small subunit 34 deficiency
Mitochondrial ribosomal small subunit 39 deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
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Home
Diseases
INTERMEDIARY METABOLISM: ENERGY
10 Disorders of mitochondrial gene expression
10.3 Disorders of the mitoribosome
10.3.1 Mitoribosome subunit deficiencies
Mitochondrial ribosomal large subunit 3 deficiency
Mitochondrial ribosomal large subunit 12 deficiency
Mitochondrial ribosomal large subunit 24 deficiency
Mitochondrial ribosomal large subunit 39 deficiency
Mitochondrial ribosomal large subunit 44 deficiency
Mitochondrial ribosomal large subunit 49 deficiency
Mitochondrial ribosomal small subunit 2 deficiency
Mitochondrial ribosomal small subunit 7 deficiency
Mitochondrial ribosomal small subunit 14 deficiency
Mitochondrial ribosomal small subunit 16 deficiency
Mitochondrial ribosomal small subunit 22 deficiency
Mitochondrial ribosomal small subunit 23 deficiency
Mitochondrial ribosomal small subunit 25 deficiency
Mitochondrial ribosomal small subunit 28 deficiency
Mitochondrial ribosomal small subunit 29 deficiency
Mitochondrial ribosomal small subunit 34 deficiency
Mitochondrial ribosomal small subunit 39 deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
Mitochondrial ribosomal small subunit 2 deficiency
Type
Disease
External link(s)
IEMbase
Gene
MRPS2
/ Mitochondrial Ribosomal Protein S2
9q34.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Mitochondrial ribosomal protein S2
Disease group(s)
10.3.1 Mitoribosome subunit deficiencies