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

Joubert syndrome-3

OMIM:608629
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolAHI1
Reference transcriptNM_001134831.1
DNA Changec.910dup
A.A. Changep.Thr304Asnfs*6
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceChafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
J Med Case Rep. 2015 Nov 5;9:254. doi: 10.1186/s13256-015-0732-3.