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Antley-Bixler syndrome with disordered steroidogenesis
Summary
- Synonym
-
- trapezoidocephaly-synostosis syndrome
- Definition
- An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
- Super Class
- Antley-Bixler syndrome autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050462
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
