Joubert syndrome 27
Joubert syndrome type 27 is an autosomal recessive disorder caused by mutations in the B9D1 gene.
Romani M et al. (2014) Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.[^]
OMIM.ORG articleOmim 617120 [^]