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

The syndrome caused by mutations in the RELN gene is a multisystem neurodevelopmental disorder characterized primarily by global developmental delay or intellectual disability, often accompanied by variable neurological and behavioral manifestations.

Additional features may include structural brain anomalies, such as abnormal cortical development and cerebellar hypoplasia, as well as epilepsy and neuropsychiatric symptoms. The clinical presentation varies depending on the type of mutation, with biallelic variants typically causing more severe forms and heterozygous variants associated with milder phenotypes.

Not all individuals with a mutation in the RELN gene exhibit 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 RELN gene.

Lorenzo Perilli, MD, PhD student, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy, dottorperilli@gmail.com; l.perilli@ucl.ac.uk

Pasquale Striano, MD, PhD, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy, pstriano@unige.it