BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
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(OMIM:609945)
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Blackfan-Diamond anemia
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(Orphanet:124)
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Craniosynostosis - anal anomalies - porokeratosis
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(Orphanet:85199)
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DIAMOND-BLACKFAN ANEMIA 1
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(OMIM:105650)
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Frontonasal dysplasia with alopecia and genital anomaly
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(Orphanet:228390)
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PARIETAL FORAMINA 2
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(OMIM:609597)
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PARIETAL FORAMINA 3
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(OMIM:609566)
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Parietal foramina
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(Orphanet:60015)
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Parietal foramina with cleidocranial dysplasia
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(Orphanet:251290)
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Potocki-Shaffer syndrome
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(Orphanet:52022)
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Rubinstein-Taybi syndrome due to CREBBP mutations
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(Orphanet:353277)
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Saethre-Chotzen syndrome
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(Orphanet:794)
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