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Results 1 - 10 of 15 for Neonatal encephalopathy
  1. MECP2-related severe neonatal encephalopathy 
    MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected ...
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy - Genetics
  2. MECP2 gene 
    ... in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. This condition almost exclusively affects males and is ... the signs and symptoms of MECP2-related severe neonatal encephalopathy. More About This Health Condition Mutations in the ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  3. Rett syndrome 
    ... syndrome, MECP2 duplication syndrome, and MECP2-related severe neonatal encephalopathy. These other conditions can affect males. This condition ... this condition is described as MECP2-related severe neonatal encephalopathy. The signs and symptoms in some males with ...
    https://medlineplus.gov/genetics/condition/rett-syndrome - Genetics
  4. 5q31.3 microdeletion syndrome 
    ... 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 (NORD) PubMed ...
    https://medlineplus.gov/.../condition/5q313-microdeletion-syndrome - Genetics
  5. Pyridoxal phosphate-responsive seizures 
    ... symptoms of the condition. PNPO deficiency PNPO-related neonatal epileptic encephalopathy PNPOD Pyridoxal 5′-phosphate-dependent epilepsy Pyridoxal phosphate- ...
    https://medlineplus.gov/.../pyridoxal-phosphate-responsive-seizures - Genetics
  6. PURA syndrome 
    ... family. PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related severe neonatal ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  7. KCNQ2 gene 
    ... Jonghe P. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012 Jan;71(1):15-25. ...
    https://medlineplus.gov/genetics/gene/kcnq2 - Genetics
  8. 2-hydroxyglutaric aciduria 
    ... D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  9. PNPO gene 
    ... Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding ...
    https://medlineplus.gov/genetics/gene/pnpo - Genetics
  10. Chromosome 5 
    ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
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