Cranioectodermal dysplasia 2

Cranioectodermal dysplasia 2 is an autosomal recessive disorder with congenital skeletal malformations and ectodermal defects. Ocular abnormalities include retinitis pigmentosa. The renal phenotype is a nephronophthisis. The disease is caused by mutations of the WDR35 gene.

Systematic

Cranioectodermal dysplasia
	Cranioectodermal dysplasia 1
	Cranioectodermal dysplasia 2
		WDR35
	Cranioectodermal dysplasia 3
	Cranioectodermal dysplasia 4

References:

1.	Gilissen C et al. (2010) Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

2.	Arts HH et al. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

3.	OMIM.ORG article Omim 613610