Joubert syndrome 06

Joubert syndrome type 6 is an autosomal recessive disorder caused by mutations in the TMEM67 gene.

Systematic

Joubert syndrome
	Joubert syndrome 01
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	Joubert syndrome 06
		TMEM67
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References:

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

2.	Dafinger C et al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

3.	Baala L et al. (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

4.	Otto EA et al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

5.	OMIM.ORG article Omim 610688

Update: June 23, 2025

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