HSD10 disease
ORPHA:391417· ICD-10 E72.8
Definition
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy, Neonatal