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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 6

Intellectual disability, autosomal recessive 6

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6

Summary

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene. [from MONDO]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EAA4, GLR6, GLUK6, GLUR6, GluK2, MRT6, NEDLAS, GRIK2
    Summary: glutamate ionotropic receptor kainate type subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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