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GTR Home > Conditions/Phenotypes > Chromosome 2p16.3 deletion syndrome

Chromosome 2p16.3 deletion syndrome

Summary

Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility to autism, schizophrenia (SCZD17), developmental delay, intellectual disability, and dysmorphic features. The phenotype is highly variable and shows incomplete penetrance (summary by Dabell et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of schizophrenia, see 181500. [from OMIM]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: Hs.22998, PTHSL2, SCZD17, NRXN1
    Summary: neurexin 1

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