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GTR Home > Conditions/Phenotypes > Mitochondrial DNA depletion syndrome 17

Mitochondrial DNA depletion syndrome 17

Summary

Mitochondrial depletion syndrome-17 (MTDPS17) is an autosomal recessive dystonic or movement disorder (summary by Shafique et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FJH1, FTSJ2, HEL97, MTDPS17, RRMJ2, MRM2
    Summary: mitochondrial rRNA methyltransferase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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