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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal recessive 2

Intellectual disability, autosomal recessive 2

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2; MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A

Summary

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

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRT2, MRT2A, CRBN
    Summary: cereblon

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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