Hernández-Aguirre Negrete syndrome
Findings
No curated finding names Hernández-Aguirre Negrete syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016290), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bulbous noseHPOHP:0000414
- Very frequent (80% to 99% of cases)
- Deep philtrumHPOHP:0002002
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Round face
Where it sits
Other names
1 name
Resolves to: Hernández-Aguirre Negrete syndrome
- Also called
- intellectual disability-epilepsy-bulbous nose syndrome