Meckel syndrome type 5 is an autosomal recessive disorder caused by mutations in the RPGRIP1L gene.
Meckel syndrome | ||||
Meckel syndrome 02 | ||||
Meckel syndrome 03 | ||||
Meckel syndrome 05 | ||||
RPGRIP1L | ||||
Meckel syndrome 06 | ||||
Meckel syndrome 08 | ||||
Meckel syndrome 09 | ||||
Meckel syndrome 10 | ||||
Meckel syndrome 11 | ||||
Meckel syndrome 13 | ||||
1. |
Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. |
2. |
OMIM.ORG article Omim 611561 |