ORPHA:35878
Hyperinsulinism-hyperammonemia syndrome
Also called HI/HA syndrome
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Europe)
- Rarity class
- Unknown
ORPHA:35878 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Asymptomatic hyperammonemia
- Reactive hypoglycemia
- Hyperinsulinemic hypoglycemia
- Global developmental delay
- Specific learning disability
- Generalized non-motor (absence) seizure