ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
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(OMIM:201750)
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Antley-Bixler syndrome
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(Orphanet:83)
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BRACHYMESOMELIA-RENAL SYNDROME
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(OMIM:113470)
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Baller-Gerold syndrome
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(Orphanet:1225)
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CHST3-related skeletal dysplasia
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(Orphanet:263463)
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Dyschondrosteosis - nephritis
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(Orphanet:1765)
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Kyphomelic dysplasia
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(Orphanet:1801)
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Marshall syndrome
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(Orphanet:560)
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Metaphyseal anadysplasia
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(Orphanet:1040)
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Microcephalic osteodysplastic primordial dwarfism type 2
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(Orphanet:2637)
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Otopalatodigital syndrome
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(Orphanet:669)
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Otopalatodigital syndrome type 2
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(Orphanet:90652)
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Phocomelia - ectrodactyly - deafness - sinus arrhythmia
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(Orphanet:2878)
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Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
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(Orphanet:71289)
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Spondyloepimetaphyseal dysplasia, Missouri type
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(Orphanet:93356)
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Van den Ende-Gupta syndrome
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(Orphanet:2460)
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