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383 results
  1. OPA1 gene 
    https://medlineplus.gov/genetics/gene/opa1
    ... which likely leads to the severe signs and symptoms of Behr syndrome. dynamin-like 120 kDa protein, mitochondrial FLJ12460 KIAA0567 ... Gueguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre ... Behr syndrome due to compound heterozygous mutations in OPA1. Brain. ...
  2. Costeff syndrome 
    https://medlineplus.gov/genetics/condition/costeff-syndrome
    ... does not appear to influence the signs and symptoms of the condition. Costeff syndrome is one of a group of metabolic disorders ... but they typically do not show signs and symptoms of the condition. ... 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia ...
  3. HSD17B4 gene 
    https://medlineplus.gov/genetics/gene/hsd17b4
    ... how the mutations lead to the signs and symptoms of Perrault syndrome. More About This Health Condition 17-beta-HSD ...
  4. MEGDEL syndrome 
    https://medlineplus.gov/genetics/condition/megdel-syndrome
    ... but they typically do not show signs and symptoms of the condition. 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh- ...
  5. TREX1 gene 
    https://medlineplus.gov/genetics/gene/trex1
    ... and other organs, resulting in the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition Variants in the ... lupus often occur in people with Aicardi-Goutières syndrome (described above). ... SLE. More About This Health Condition TREX1 ...
  6. ADAR gene 
    https://medlineplus.gov/genetics/gene/adar
    ... tissues and organs, leading to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition ADAR gene variants ... Crow YJ. Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a ... GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola ...
  7. RNASEH2B gene 
    https://medlineplus.gov/genetics/gene/rnaseh2b
    ... multiple body systems that cause the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition ribonuclease H2, subunit ...
  8. SAMHD1 gene 
    https://medlineplus.gov/genetics/gene/samhd1
    ... inflammatory damage that leads to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition DCIP dendritic cell- ...
  9. Mitochondrial complex I deficiency 
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency
    ... complex I deficiency have groups of signs and symptoms that are classified as a specific syndrome. For example, a condition called Leigh syndrome is ... commonly caused by mitochondrial complex I deficiency. Leigh syndrome is ... onset of symptoms. Another condition that can be caused by mitochondrial ...
  10. 16p11.2 duplication 
    https://medlineplus.gov/genetics/condition/16p112-duplication
    ... typically have no history of related signs or symptoms in their family, although their children can inherit the chromosomal change. 16p11.2 duplication syndrome 16p11.2 microduplication Autism, susceptibility to, 14B AUTS14B ...
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