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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 5

Intellectual disability, autosomal recessive 5

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5

Summary

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene. [from MONDO]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MISU, MRT5, SAKI, TRM4, NSUN2
    Summary: NOP2/Sun RNA methyltransferase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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