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GTR Home > Conditions/Phenotypes > Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)

Summary

Mitochondrial DNA depletion syndrome-16B (MTDPS16B) is an autosomal recessive childhood-onset and progressive neuroophthalmic mtDNA depletion disorder characterized by optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia, and generalized chorea (Dosekova et al., 2020). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HP55, MTDPS16, MTDPS16A, MTDPS16B, MTPOLB, PEOA4, POLB, POLG-BETA, POLGB, POLG2
    Summary: DNA polymerase gamma 2, accessory subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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