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.
|Cranioectodermal dysplasia 1|
|Cranioectodermal dysplasia 2|
|Cranioectodermal dysplasia 3|
|Cranioectodermal dysplasia 4|
Bredrup C et. al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.[^]
Arts HH et. al. (2011) C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.[^]