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.