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.