Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.


A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities.




Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

Cookie policy

We would like to use anonymized google analytics cookies to gather statistics on how is used in aggregate. Learn more

UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health