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Results 1 - 10 of 42 for Optic atrophy 12
  1. Optic atrophy type 1 
    ... PubMed Delettre-Cribaillet C, Hamel CP, Lenaers G. Optic Atrophy Type 1 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2007 Jul 13 [updated 2015 Nov 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/condition/optic-atrophy-type-1 - Genetics
  2. OPA1 gene 
    ... PubMed Delettre-Cribaillet C, Hamel CP, Lenaers G. Optic Atrophy Type 1 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2007 Jul 13 [updated 2015 Nov 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  3. Autosomal dominant optic atrophy and cataract 
    ... mitochondrial network. J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17. Citation on PubMed Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Dominant optic atrophy. Orphanet J Rare Dis. 2012 Jul 9;7: ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  4. Costeff syndrome 
    ... aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  5. OPA3 gene 
    ... Hereditary Optic Neuropathy. PLoS One. 2017 Jan 12;12(1):e0170090. doi: ... for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 Sep;41( ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  6. MFN2 gene 
    ... carry information from the eyes to the brain (optic atrophy).It is unclear how MFN2 gene mutations lead ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  7. WFS1 gene 
    ... carry information from the eyes to the brain (optic atrophy), and a number of other features involving the ... that is characterized by progressive hearing loss and optic atrophy leading to vision loss, typically beginning in adolescence. ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  8. 3-methylglutaconyl-CoA hydratase deficiency 
    ... legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the breakdown (atrophy) of nerve cells ... speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).Affected ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  9. Charcot-Marie-Tooth disease 
    ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY; HMSN6B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  10. Thiamine-responsive megaloblastic anemia syndrome 
    ... individuals with thiamine-responsive megaloblastic anemia syndrome develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Heart and blood vessel (cardiovascular) ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
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