Condition: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
rs587777522
in
ADNP
gene and
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
PMID 24531329
2014 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
PMID 25169753
2014 The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.