Vrozená dysgeneze mozku způsobená deficitem glutamin syntetázy
ORPHA:71278· ICD-10 E72.8· Congenital brain dysgenesis due to glutamine synthetase deficiency
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy, Neonatal
ORPHA:71278· ICD-10 E72.8· Congenital brain dysgenesis due to glutamine synthetase deficiency