An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet. [from SNOMEDCT_US]
- MedGen UID:
- 435975
- •Concept ID:
- C2673649
- •
- Disease or Syndrome
- GTR
- ClinVar
- Genes
- OMIM
- GeneReviews