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Results 1 - 10 of 27 for Neonatal hypotonia
  1. ... family. PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related ...
  2. ... history of the disorder in their family. Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Genetic Testing Registry: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome National Organization for Rare Disorders ( ...
  3. ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. ...
  4. ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. ...
  5. ... affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with ...
  6. ... movement involve the brain, spinal cord, nerves, and muscles. Hypotonia may be a sign of a problem anywhere ...
  7. Congenital Central Hypoventilation Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Autonomic Nervous System Disorders/Specifics ... Autonomic Nervous System Disorders ... Find symptoms and other information about Congenital central hypoventilation ...
  8. ... the neonatal type. Males with the infantile or neonatal type frequently have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and vision loss that gradually ...
  9. MECP2-related severe neonatal ... seizures. Infants with this condition appear normal at birth but then develop severe ...
  10. ... in life.Other features of 6q24-related transient neonatal diabetes mellitus that occur in ... Between 1 in 215, ...
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