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Neonatal hypotonia
- ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. ...
- ... been identified in most people with benign familial neonatal seizures (BFNS), a ... tone (hypotonia) or very stiff muscles, causing difficulty with movement. ...
- ... include feeding difficulties, lethargy, hypoglycemia, weak muscle tone (hypotonia), and ... GC, Das AM. Neonatal screening for defects of the mitochondrial trifunctional protein. ...