Condition: PITT-HOPKINS-LIKE SYNDROME 2


rs1476850082 in NRXN1 gene and PITT-HOPKINS-LIKE SYNDROME 2 PMID 19896112 2009 CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

PMID 21964664 2011 Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters.

PMID 25149956 2014 Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.