Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 9 of 9 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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Adenylosuccinate lyase deficiency 
    ... signs and symptoms. The most severe is the neonatal form. Signs and ... have severe encephalopathy, which leads to a lack of movement, difficulty ...
    https://medlineplus.gov/.../adenylosuccinate-lyase-deficiency - Genetics
  8. Combined oxidative phosphorylation deficiency 1 
    ... Bohr AH, Duno M, Wibrand F, Ostergaard E. Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations. Mol ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  9. N-acetylglutamate synthase deficiency 
    ... the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum Genet. 2003 Apr;112( ... acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. Ann Neurol. 2002 Dec;52(6):845-9. ...
    https://medlineplus.gov/.../n-acetylglutamate-synthase-deficiency - Genetics