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Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Disease Summary
Associated Targets (2)
Tclin

2


Uniprot Description A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported.
Mondo Term and Equivalent IDs
MONDO:0020667:  Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis