Gene List:
AHI1, ARL13B, B9D1, B9D2, CC2D2A, CEP104, CEP120, CEP290, CEP41, CPLANE1, CSPP1, IFT172, INPP5E, KIAA0586, KIF14, KIF7, MKS1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

References:
Hartill V, et al. Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. Front Pediatr. 2017 Nov 20;5:244.

Brancati F, et al. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20.

Parisi M, et al. Joubert Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Jul 9 [updated 2017 Jun 29].