This website provides information on patients with disease causing variants in the PRUNE1 gene, including clinical data, molecular data, management and research options.

Biallelic deleterious variants in the PRUNE1 gene cause a neurodevelopmental disorder named NMIHBA for neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, which are the major features of the condition.

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 disease associated variants in the PRUNE1 gene.

Claudia Gonzaga-Jauregui, PhD, Regeneron Genetics Center, Tarrytown, New York, USA, cgonzagaj@gmail.com