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KBG syndrome
Genetics:
- associated with defects in ANKRD11
Clinical manifestations:
- macrodontia of the upper central incisors
- distinctive craniofacial findings
- short stature
- skeletal anomalies
- global developmental delay
- seizures
- intellectual disability
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 148050
References
OMIM :accession 148050