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disease: Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

id1192
nameCraniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development
variant-disease NM_005631.5(SMO):c.1234C>T (p.Leu412Phe) AND Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development