Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

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

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Update: Sept. 26, 2018