Joubert syndrome 19
Joubert syndrome type 19 is an autosomal recessive disorder caused by mutations in the ZNF423 gene.
Chaki M et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.[^]
OMIM.ORG articleOmim 614844 [^]
Update: April 29, 2019