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Results 21 - 28 of 28 for Progressive encephalopathy
  1. POLG gene 
    ... Condition MedlinePlus Genetics provides information about Mitochondrial neurogastrointestinal encephalopathy disease More About This Health Condition Variants in ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  2. MECP2 gene 
    ... the MECP2 gene cause MECP2-related severe neonatal encephalopathy. This condition almost exclusively affects males and is ... 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. Ataxia neuropathy spectrum 
    ... ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures. Some affected individuals have weakness of ... and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord. 2003 Feb;13(2): ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  4. Mitochondrial complex V deficiency 
    ... in some cases result in abnormal brain function (encephalopathy) and damage to other organs.Another common feature ... complex V deficiency. Leigh syndrome is characterized by progressive loss of mental and movement abilities (developmental or ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  5. TBC1D24 gene 
    ... people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of ... disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations likely result in ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  6. CLPB gene 
    ... of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ... Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  7. CLPB deficiency 
    ... of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ... Wevers RA. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  8. Mitochondrial complex I deficiency 
    ... have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements ( ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
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