Joubert syndrome 30
Joubert syndrome 30 is an autosomal recessive disorder caused by mutations of the ARMC9 gene.
Van De Weghe JC et al. (2017) Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.[^]
OMIM.ORG articleOmim 617622 [^]