Condition: MECKEL SYNDROME, TYPE 5


rs151332923 in RPGRIP1L gene and MECKEL SYNDROME, TYPE 5 PMID 17558409 2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

PMID 21368913 2011 Clinical utility gene card for: Meckel syndrome.

PMID 19430481 2009 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.