Condition: Agenesis of corpus callosum


rs750610248 in BCL11B gene and Agenesis of corpus callosum PMID 27959755 2016 Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

rs1555682265 in DCC gene and Agenesis of corpus callosum PMID 28250456 2017 Biallelic mutations in human DCC cause developmental split-brain syndrome.

rs1057516033 in KAT6B gene and Agenesis of corpus callosum PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.