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.
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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