PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
A rare neurologic disease characterized by neonatal hypotonia global developmental delay feeding difficulties and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features myopathic facies respiratory problems and visual abnormalities such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.
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
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The PURA Syndrome Foundation
Our mission is to serve, educate and fund research for families coping with the effects of PURA syndrome. Foundation, families, clinicians and researchers together as one community.
Clinical Trials
For a list of clinical trials in this disease area, please click here.