Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Bardet-Biedl syndrome 20

Bardet-Biedl syndrome 20 is an autosomal recessive disorder caused by mutations in the IFT74 gene.

Systematic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 01
Bardet-Biedl syndrome 02
Bardet-Biedl syndrome 03
Bardet-Biedl syndrome 04
Bardet-Biedl syndrome 05
Bardet-Biedl syndrome 06
Bardet-Biedl syndrome 07
Bardet-Biedl syndrome 08
Bardet-Biedl syndrome 09
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 18
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 20
IFT74

References:

1.

Lindstrand A et al. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

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2.

OMIM.ORG article

Omim 617119 [^]
Update: April 29, 2019