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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 51

Intellectual disability, autosomal recessive 51

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51

Summary

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

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: HMT, HNMT-S1, HNMT-S2, MRT51, HNMT
    Summary: histamine N-methyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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