RERE-related neurodevelopmental syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay intellectual disability hypotonia seizures and autism spectrum disorder. Variable associated features include ophthalmologic anomalies congenital heart defects genitourinary defects and craniofacial dysmorphism (including frontal bossing epicanthal folds low-set posteriorly rotated ears anteverted nares and micrognathia). Brain imaging may show thinning of the corpus callosum white matter abnormalities ventriculomegaly and a small cerebellar vermis.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
RERE-related neurodevelopmental syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.