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.