Joubert syndrome 08

Joubert syndrome type 8 is an autosomal recessive disorder caused by mutations in the ARL13B gene.

Systematic

Joubert syndrome
	Joubert syndrome 01
	Joubert syndrome 02
	Joubert syndrome 03
	Joubert syndrome 04
	Joubert syndrome 05
	Joubert syndrome 06
	Joubert syndrome 07
	Joubert syndrome 08
		ARL13B
	Joubert syndrome 09
	Joubert syndrome 10
	Joubert syndrome 11
	Joubert syndrome 12
	Joubert syndrome 13
	Joubert syndrome 14
	Joubert syndrome 15
	Joubert syndrome 16
	Joubert syndrome 17
	Joubert syndrome 18
	Joubert syndrome 19
	Joubert syndrome 20
	Joubert syndrome 21
	Joubert syndrome 22
	Joubert syndrome 23
	Joubert syndrome 24
	Joubert syndrome 25
	Joubert syndrome 26
	Joubert syndrome 27
	Joubert syndrome 28
	Joubert syndrome 29
	Joubert syndrome 30
	Joubert syndrome 31
	Joubert syndrome 32
	Joubert syndrome 33
	Joubert syndrome 34
	Joubert syndrome 35

References:

1.	Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

2.	Cantagrel V et al. (2008) Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

3.	Thomas S et al. (2015) Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

4.	OMIM.ORG article Omim 612291

Update: June 23, 2025

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