Spondyloocular syndrome (SOS) is an autosomal recessive disorder characterized by platyspondyly, bone fragility, cataract, retinal detachment, hearing impairment, cardiac defects, and facial dysmorphism (Schmidt et al., 2001; Munns et al., 2015). [from OMIM]
- MedGen UID:
- 900371
- •Concept ID:
- C4225412
- •
- Disease or Syndrome