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