syndromic disease multiple congenital anomalies/dysmorphic syndrome-intellectual disability Hernández-Aguirre Negrete syndrome https://github.com/monarch-initiative/mondo/issues/3597 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/9285 https://www.malacards.org/card/hernandez_aguirre_negrete_syndrome_2 A 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. UMLS:C2931736 intellectual disability-epilepsy-bulbous nose syndrome MESH:C538112 GARD:0003491 MEDGEN:419481 SCTID:721146009 Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability MONDO:0016290 Ehlers-Danlos syndrome with progeroid facies and mild mental retardation Orphanet:2139