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frontometaphyseal dysplasia
Pathology:
- congenital bone disorder
Genetics:
- associated with defects in FLNA
Clinical manifestations:
- supraorbital hyperostosis
- deafness & digital anomalies
General
otopalatodigital syndrome (oto-palato-digital syndrome spectrum disorder)
Database Correlations
OMIM 305620
References
OMIM :accession 305620