This website provides information on patients with mutations in the EIF2S3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the EIF2S3 gene is a multisystem disorder (originally described as MEHMO syndrome), characterized by a spectrum of X-linked intellectual disability (mild to severe), epilepsy, microcephaly, endocrine abnormalities [growth hormone deficiency (short stature), hypogonadism (cryptorchidism), hypogenitalism (micropenis, hypospadias), hypo- or hyperglycemia and diabetes mellitus, hypothyroidism, complete or partial hypopituitarism], and obesity. Not all individuals with a mutation in the EIF2S3 gene have all 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 EIF2S3 gene.

Martina Skopkova, PhD, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia, martina.skopkova@savba.sk

An Ngoc Dang Do, MD, PhD, Unit on Cellular Stress in Development and Diseases NICHD, NIH, Bethesda, USA, an.dangdo@nih.gov