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Results 1 - 10 of 24 for Congenital encephalopathy
  1. MECP2-related severe neonatal encephalopathy 
    ... binding protein 2 related severe neonatal encephalopathy Severe congenital encephalopathy due to MECP2 mutation Severe neonatal encephalopathy due ... DD, Vogel H, Oviedo A, Francke U. Severe congenital encephalopathy caused by MECP2 null mutations in males: central ...
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy - Genetics
  2. Horizontal gaze palsy with progressive scoliosis 
    ... with progressive scoliosis Familial idiopathic scoliosis associated with congenital encephalopathy Familial infantile scoliosis associated with bilateral paralysis of ...
    https://medlineplus.gov/...tal-gaze-palsy-with-progressive-scoliosis - Genetics
  3. Asparagine synthetase deficiency 
    ... and symptoms of the condition. ASNS deficiency ASNSD Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Disorder of asparagine metabolism ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  4. CLPB gene 
    ... Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  5. CLPB deficiency 
    ... Michaud JL. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  6. SLC35A2-congenital disorder of glycosylation 
    ... CDG syndrome type IIm CDG-IIm CDG2M CDGIIm Congenital disorder of glycosylation, type IIm EIEE22 Epileptic encephalopathy, early infantile, 22 SLC35A2-CDG Genetic Testing Registry: ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  7. Autosomal recessive congenital methemoglobinemia 
    ... loss of these cells likely contributes to the encephalopathy and movement disorders characteristic of autosomal recessive congenital methemoglobinemia type II. CYB5R3 This condition is inherited ...
    https://medlineplus.gov/...al-recessive-congenital-methemoglobinemia - Genetics
  8. Newborn Screening (National Library of Medicine)  
    Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include: Tests ...
    https://medlineplus.gov/newbornscreening.html - Health Topics
  9. CYB5R3 gene 
    ... loss of these cells likely contributes to the encephalopathy and movement disorders characteristic of autosomal recessive congenital methemoglobinemia type II. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/cyb5r3 - Genetics
  10. Aicardi-Goutières syndrome 
    ... is sometimes referred to as a "mimic of congenital infection."Within the first year of life, most individuals with Aicardi-Goutières syndrome experience an episode of severe brain dysfunction (encephalopathy), typically lasting for several months. During this encephalopathic ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
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