Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Meckel syndrome type 5 is an autosomal recessive disorder caused by mutations in the RPGRIP1L gene.
Meckel syndrome
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Meckel syndrome 02
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Meckel syndrome 03
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Meckel syndrome 05
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RPGRIP1L
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Meckel syndrome 06
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Meckel syndrome 08
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Meckel syndrome 09
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Meckel syndrome 10
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Meckel syndrome 11
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Meckel syndrome 13
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| 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
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