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Hernández-Aguirre Negrete syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Intellectual disability-epilepsy-bulbous nose syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C2931736
  • MeSH: C538112
  • GARD: -
  • MedDRA: -
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