ORPHA:230
Dopamine beta-hydroxylase deficiency
Also called DBH deficiency
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:230 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Orthostatic hypotension
- Bilateral ptosis
- Elevated urinary dopamine
- Rhinitis
- Syncope
- Reduced tendon reflexes