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

Mutations in the AGMO gene have been identified by exome and genome sequencing of patients affected by neurodevelopmental disabilities, relapses in visceral leishmaniasis and autosomal recessive primary microcephaly (MCPH).

Not all individuals with a mutation in the AGMO gene have the same features.

This website was created to share and collect information about clinical features, management and research studies to gather information and provide knowledge to inform better treatment of patients with mutations in the AGMO gene.

Katrin Watschinger, PhD, Medical University of Innsbruck, Institute of Biological Chemistry, Innsbruck, Austria, katrin.watschinger@i-med.ac.at

Wendy Chung, MD, PhD, Columbia University, New york, NY, USA, wkc15@cumc.columbia.edu