Joubert syndrome 21

Joubert syndrome 21 is an autosomal recessive disorder caused by mutations of the CSPP1 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
	Joubert syndrome 15
	Joubert syndrome 16
	Joubert syndrome 17
	Joubert syndrome 18
	Joubert syndrome 19
	Joubert syndrome 20
	Joubert syndrome 21
		CSPP1
	Joubert syndrome 22
	Joubert syndrome 23
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	Joubert syndrome 27
	Joubert syndrome 28
	Joubert syndrome 29
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	Joubert syndrome 31
	Joubert syndrome 32
	Joubert syndrome 33
	Joubert syndrome 34
	Joubert syndrome 35

References:

1.	Shaheen R et al. (2014) Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.

2.	Akizu N et al. (2014) Mutations in CSPP1 lead to classical Joubert syndrome.

3.	Tuz K et al. (2014) Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

4.	OMIM.ORG article Omim 615636

Update: June 23, 2025

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