Sindrome blefarofimosi-deficit cognitivo
ORPHA:293642· Blepharophimosis-intellectual disability syndrome
- Prevalenza
- <1 / 1 000 000
- Trasmissione
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
- Età di esordio
- Infancy, Neonatal