PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
ORPHA:438216· ICD-10 G40.4
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
ORPHA:438216· ICD-10 G40.4