PCNA-assoziiertes progressives neurodegeneratives photosensitives-Syndrom
ORPHA:438134· ICD-10 G11.3· PCNA-related progressive neurodegenerative photosensitivity syndrome
- Prävalenz
- <1 / 1 000 000
- Vererbung
- Autosomal recessive
- Erkrankungsalter
- Infancy, Neonatal