Hernández-Aguirre Negrete syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability
related
Ehlers-Danlos syndrome with progeroid facies and mild mental retardation
related
intellectual disability-epilepsy-bulbous nose syndrome
exact