Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Meckel syndrome 05

Meckel syndrome type 5 is an autosomal recessive disorder caused by mutations in the RPGRIP1L gene.

Systematic

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

References:

1.

Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

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2.

OMIM.ORG article

Omim 611561 [^]
Update: April 29, 2019