This website provides information on patients with variants in the ZNF148 gene, including clinical data, molecular data, management and research options.

The syndrome caused by variants in the ZNF148 gene is a multisystem disorder characterized by intellectual disability, developmental delay, underdevelopment of the corpus callosum, short stature, aberrant head size (from microcephaly to mild macrocephaly), renal abnormalities, feeding problems and facial dysmorphic features. Not all individuals with a mutation in the ZNF148 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 variation in the ZNF148 gene.

Abdallah F Elias, MD, Department Medical Genetics, Shodair Children’s Hospital, Helena, Montana, USA, AElias@shodair.org

Servi JC Stevens, PhD, Department of Clinical Genetics, Maastricht University, Maastricht, The Netherlands, servi.stevens@mumc.nl