Joubert syndrome 26

Joubert syndrome 26 is an autosomal recessive disorder caused by mutations of the KIAA0556 gene.

Systematic

Joubert syndrome
	Joubert syndrome 01
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	Joubert syndrome 11
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	Joubert syndrome 18
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	Joubert syndrome 23
	Joubert syndrome 24
	Joubert syndrome 25
	Joubert syndrome 26
		KIAA0556
	Joubert syndrome 27
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	Joubert syndrome 32
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	Joubert syndrome 35

References:

1.	Sanders AA et al. (2015) KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

2.	Roosing S et al. (2016) Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

3.	OMIM.ORG article Omim 616784

Update: June 23, 2025

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