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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2139
Hernández-Aguirre Negrete syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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