Cataratta congenita - dismorfismi facciali - neuropatia
ORPHA:48431· ICD-10 Q87.8· Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Prevalenza
- <1 / 1 000 000
- Trasmissione
- Autosomal recessive
- Età di esordio
- Infancy, Neonatal
ORPHA:48431· ICD-10 Q87.8· Congenital cataracts-facial dysmorphism-neuropathy syndrome