Clinical Characteristics

Macrocephaly, seizure, hypotonia, global developmental delay, recurrent urinary tract infections due to urinary tract malformation and brain malformation.

This website uses cookies

By choosing "Accept all cookies" you agree to the use of cookies to help us provide you with a better user experience and to analyse website usage. By clicking "Adjust your preferences" you can choose which cookies to allow. Only the essential cookies are necessary for the proper functioning of our website and cannot be refused

Cookie settings

Our website stores four types of cookies. At any time you can choose which cookies you accept and which you refuse. You can read more about what cookies are and what types of cookies we store in our Cookie Policy.

Essential cookies

are necessary for technical reasons. Without them, this website may not function properly.

Functional cookies

are necessary for specific functionality on the website. Without them, some features may be disabled.

Analytical cookies

allow us to analyse website use and to improve the visitor's experience.

Marketing cookies

allow us to personalise your experience and to send you relevant content and offers, on this website and other websites.