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spondyloperipheral dysplasia
Genetics:
- associated with defects in COL2A1
Clinical manifestations:
- short stature
- midface hypoplasia
- sensorineural hearing loss
- spondyloepiphyseal dysplasia
- platyspondyly
- brachydactyly
General
skeletal dysplasia
Database Correlations
OMIM 271700
References
OMIM :accession 271700