ITPA-vázaná encefalopatie
ORPHA:457375· ICD-10 G40.4· ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy, Neonatal
ORPHA:457375· ICD-10 G40.4· ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement