Joubert syndrome 09

Joubert syndrome type 9 is an autosomal recessive disorder caused by mutations in the CC2D2A gene.

Systematic

Joubert syndrome
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	Joubert syndrome 09
		CC2D2A
	Joubert syndrome 10
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References:

1.	Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

2.	Gorden NT et al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

3.	Noor A et al. (2008) CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

4.	Bachmann-Gagescu R et al. (2012) Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

5.	OMIM.ORG article Omim 612285

Update: Aug. 14, 2020

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