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Shox-related short stature
1 OMIM reference -
1 associated gene
4 connected diseases
No signs/symptoms info
Disease Type of connection
Langer mesomelic dysplasia
Léri-Weill dyschondrosteosis
12p12.1 microdeletion syndrome
Developmental and speech delay due to SOX5 deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SHOX O15266312865
No signs/symptoms info available.