Blefarofimosi - ptosi - esotropia - sindattilia - bassa statura
ORPHA:2057· ICD-10 Q87.8· Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- Prevalenza
- <1 / 1 000 000
- Trasmissione
- Autosomal recessive
- Età di esordio
- Neonatal
ORPHA:2057· ICD-10 Q87.8· Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome