This website provides information on patients with mutations in the GEMIN5 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the GEMIN5 gene is a multisystem disorder characterized by

•    Global developmental delay
•    Motor dysfunction
•    Intellectual disability
•    Cerebellar atrophy
•    Hypotonia
•    Speech and motor impairment

Not all individuals with a mutation in the GEMIN5 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 GEMIN5 gene.

Udai Pandey, PhD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA, udai@pitt.edu
Deepa Rajan, MD, University of Pittsburgh Medical Center, Pittsburgh, PA, USA, rajands@upmc.edu