Joubert syndrome 14

Joubert syndrome type 14 is an autosomal recessive disorder caused by mutations in the TMEM237 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
	Joubert syndrome 09
	Joubert syndrome 10
	Joubert syndrome 11
	Joubert syndrome 12
	Joubert syndrome 13
	Joubert syndrome 14
		TMEM237
	Joubert syndrome 15
	Joubert syndrome 16
	Joubert syndrome 17
	Joubert syndrome 18
	Joubert syndrome 19
	Joubert syndrome 20
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	Joubert syndrome 22
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	Joubert syndrome 30
	Joubert syndrome 31
	Joubert syndrome 32
	Joubert syndrome 33
	Joubert syndrome 34
	Joubert syndrome 35

References:

1.	Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

2.	Janecke AR et al. (2004) Joubert-like syndrome unlinked to known candidate loci.

3.	Boycott KM et al. (2007) Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

4.	Huang L et al. (2011) TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

5.	Schurig V et al. (1980) The Meckel syndrome in the Hutterites.

6.	OMIM.ORG article Omim 614424

Update: June 23, 2025

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