PhenomeGene — Human Disease Gene Website SeriesRALA

RALA

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

The syndrome caused by mutations in the RALA gene is a multisystem disorder characterized by speech and motor delays, intellectual disability, low weight, short stature, and facial dysmorphism.

Not all individuals with a mutation in the RALA gene have all of these features.

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

Susan M. Hiatt, PhD, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA, shiatt@hudsonalpha.org

Gregory M. Cooper, PhD, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA, gcooper@hudsonalpha.org

Matthew B. Neu, MD, PhD, Stanford University,  Stanford, CA, USA, mneu@stanford.edu