CHANARIN-DORFMAN SYNDROME or
Severe Neurodevelopmental Syndrome
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. (Nat Genet. 47: 1363-1369, 2015.)
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. (Elife. 4: e06602, 2015.)
Look up phenotypes associated with KIAA0586 in Decipher
List of phenotypes that have been assigned to the G2P entry.