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Schizophrenia 17(SCZD17)

MedGen UID:
814824
Concept ID:
C3808494
Disease or Syndrome
Synonyms: SCHIZOPHRENIA, SUSCEPTIBILITY TO, 17; SCZD17
 
Gene (location): NRXN1 (2p16.3)
 
OMIM®: 614332

Definition

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]

Recent clinical studies

Diagnosis

Niculescu AB, Lulow LL, Ogden CA, Le-Niculescu H, Salomon DR, Schork NJ, Caligiuri MP, Lohr JB
Am J Med Genet B Neuropsychiatr Genet 2006 Sep 5;141B(6):653-62. doi: 10.1002/ajmg.b.30404. PMID: 16838358

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