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Hernández-Aguirre Negrete syndrome

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0016290:  Hernández-Aguirre Negrete syndrome
GARD:0003491: 
MESH:C538112: 
Orphanet:2139: 
SCTID:721146009: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found