PMID 22617343 2012 Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
rs1554297905 in
RALA gene and
Autistic behavior
PMID 30500825 2018 De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
rs1567368243 in
SIN3A gene and
Autistic behavior
PMID 30267900 2019 Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.