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.
Cranioectodermal dysplasia | ||||
Cranioectodermal dysplasia 1 | ||||
Cranioectodermal dysplasia 2 | ||||
WDR35 | ||||
Cranioectodermal dysplasia 3 | ||||
Cranioectodermal dysplasia 4 | ||||
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 |