Condition: ALKURAYA-KUCINSKAS SYNDROME
rs1554025656
in
KIAA1109
gene and
ALKURAYA-KUCINSKAS SYNDROME
PMID 25558065
2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID 29290337
2018 KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.