Joubert syndrome 15
Joubert syndrome type 15 is an autosomal recessive disorder caused by mutations in the TMEM237 gene.
Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.[^]
OMIM.ORG articleOmim 614464 [^]
Update: April 29, 2019