Hernández-Aguirre Negrete syndrome
Synonyms: Intellectual disability-epilepsy-bulbous nose syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay mild intellectual disability seizures obesity and dysmorphic facial features (including large bulbous nose prominent philtrum wide mouth). Additional reported features are bilateral pes planus scoliosis and spina bifida occulta. Brain MRI may show mild ventricular dilatation.
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 September 2023.
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Hernández-Aguirre Negrete 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.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.