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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 46

Intellectual disability, autosomal recessive 46

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46

Summary

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene. [from MONDO]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HSST, MRT46, NST1, NDST1
    Summary: N-deacetylase and N-sulfotransferase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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