Joubert syndrome-3

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

Mutations

Gene Symbol	AHI1
Reference transcript	NM_001134831.1
DNA Change	c.910dup
A.A. Change	p.Thr304Asnfs*6
Exon/Intron	exon 8
Mutation Type	substitution
Reference	Chafai-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.

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