This website provides information on patients with disease-causing variants in the ZNF668 gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variants in the ZNF668 gene is a multisystem disorder characterized by global developmental delay, loss of subcutaneous fat, and distinctive facial features including a large nose and large ears.

Additional symptoms may include Intellectual disability, microcephaly, seizures, hypotonia, spasticity, failure-to-thrive, feeding difficulties, deep-set eyes, preauricular skin tags, ogival palate, maxillary prognathism, broad thumbs, large toes, hepatomegaly and heterotopia. Not all individuals with pathogenic variants in the ZNF668 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 ZNF668 gene.

Dr. Fowzan S. Alkuraya, MD, Lifera Omics, Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, falkuraya@liferaomics.com.sa

Hatoon Al Ali, PhD candidate, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA, Hatoon.alali@bcm.edu

Hessa S Alsaif, MSc, Wellness and Preventative Medicine Institute, Health Sector, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia, HAlsaif@kacst.gov.sa