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Stapes ankylosis with broad thumbs and toes
1 OMIM reference -
1 associated gene
8 connected diseases
No signs/symptoms info
Disease Type of connection
Brachydactyly type B2
Multiple synostoses syndrome
Proximal symphalangism
Tarsal-carpal coalition syndrome
20p12.3 microdeletion syndrome
Brachydactyly type A2
14q22q23 microdeletion syndrome
Microphthalmia with brain and digit anomalies
Synonym(s):
- Teunissen-Cremers syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NOG Q13253602991
No signs/symptoms info available.