A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. [from ORDO]
- MedGen UID:
- 347880
- •Concept ID:
- C1859432
- •
- Disease or Syndrome
- GTR
- ClinVar
- Genes
- OMIM
- GeneReviews