Chromosome 2P16.3 deletion syndrome

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.

OMIM