This website provides information on patients with mutations in the CUL4B gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CUL4B gene is a multisystem disorder characterized by developmental delay/intellectual disability, somatic dysmorphisms (macrocephaly, short stature, coarse face, high forehead, prominent lower lip, malformed and/or abnormally positioned ears, small hands, brachydactyly), obesity, hypogonadotrophic hypogonadism, behavioral disturbances, wide-based ataxia and intention tremor, seizures.
Not all individuals with a mutation in the CUL4B gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CUL4B gene.

Emanuele Bartolini, MD, IRCCS Foundation Stella Maris, Pisa, Italy,

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