Cranioectodermal dysplasia 4

Cranioectodermal dysplasia 4 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 WDR19 gene.

Systematic

Cranioectodermal dysplasia
	Cranioectodermal dysplasia 1
	Cranioectodermal dysplasia 2
	Cranioectodermal dysplasia 3
	Cranioectodermal dysplasia 4
		WDR19

References:

1.	Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

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

3.	OMIM.ORG article Omim 614378