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ENBaraitser-Winter Cerebrofrontofacial Syndrome
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Baraitser-Winter Cerebrofrontofacial Syndrome is related to ptosis and baraitser-winter syndrome. An important gene associated with Baraitser-Winter Cerebrofrontofacial Syndrome is ACTG1 (Actin Gamma 1), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and NFAT and Cardiac Hypertrophy. Affiliated tissues include eye and neutrophil, and related phenotypes are intellectual disability and seizure
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