NRXN1, neurexin 1, 9378

N. diseases: 139; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.130 GeneticVariation disease BEFREE Assessment of the clinical details in 25 previously undescribed individuals with NRXN1 exonic deletions demonstrated recurrent phenotypic features consisting of moderate to severe intellectual disability (91%), severe language delay (81%), autism spectrum disorder (65%), seizures (43%), and hypotonia (38%). 23533028 2013
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.130 GeneticVariation disease BEFREE We report on patients with heterozygous defects in CNTNAP2 or NRXN1 associated with severe intellectual disability, which has only been reported for recessive defects before. 21827697 2011
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.130 Biomarker disease BEFREE Whereas the established synaptic role of NRXN1 suggests that synaptic defects contribute to the associated neuropsychiatric disorders and to severe MR as reported here, evidence for a synaptic role of the CNTNAP2-encoded protein CASPR2 has so far been lacking. 19896112 2009
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.130 Biomarker disease HPO