Cranioectodermal dysplasia 1 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 IFT122 gene.
Cranioectodermal dysplasia | ||||
Cranioectodermal dysplasia 1 | ||||
IFT122 | ||||
Cranioectodermal dysplasia 2 | ||||
Cranioectodermal dysplasia 3 | ||||
Cranioectodermal dysplasia 4 | ||||
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OMIM.ORG article Omim 218330 |