Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Sensenbrenner syndrome

OMIM:218330
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolIFT43
Reference transcriptNM_052873.2
DNA Changec.1A>G
A.A. Changep.MET1VAL
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceArts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R.C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
J Med Genet. 2011 Jun;48(6):390-5.