This website provides information on patients with mutations in the MORC2 gene, including clinical data, molecular data, management and research options.

The neurodevelopmental syndrome caused by mutations in the MORC2 gene is a multisystem disorder characterized by developmental delay, intellectual disability, growth retardation, microcephaly and variable craniofacial dysmorphism. In addition, some individuals have hearing loss, retinal pigmentary abnormalities, and brain lesions suggestive of Leigh syndrome on brain MRI. Many individuals also have weakness, hyporeflexia and abnormal nerve conduction studies suggestive of a sensorimotor neuropathy, but the presence of other system involvement separates them from those presenting with classic Charcot-Marie-Tooth type 2Z disease.

Not all individuals with a mutation in the MORC2 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 MORC2 gene.

Maria J. Guillen Sacoto, MD, GeneDx Inc., Gaithersburg, MD, USA, mguillen@genedx.com

Jamie Fraser, MD, PhD, Children’s National Medical Center, Washington, DC, USA