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GENATLAS PHENOTYPE
last update : 02-07-2019
Symbol IDEM
Location 2p16.3
Name intellectual disability, epilepsy, macrocephaly
Corresponding gene NRXN1
Main clinical features
  • neurodevelopmental and neuropsychiatric syndrome
  • intellectual disability and/or requirement of special education, autism spectrum disorder, seizures, generalized tonic–clonic seizures
  • in any cases congenital heart defect
  • Genetic determination not applicable
    Function/system disorder mental retardation
    neurology
    cardiovascular
    Type disease
    Remark(s)
  • NRXN1 exon deletions associated with IDEM
  • deletions of C-terminal exons of NRXN1 associate with increased head size and epilepsy (PMID: 22617343))