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Pallisterov-Hallovej syndróm
Subject h. Pallisterov-Hallovej syndróm Subject h. Pallister-Hall Syndrome Scope note in English A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member. 
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Number of the records: 1