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Results 1 - 10 of 16 for Hereditary optic atrophy
  1. ... change to their children. Hereditary optic neuroretinopathy Leber hereditary optic atrophy Leber optic atrophy Leber's hereditary optic neuropathy ... s optic neuropathy LHON Genetic Testing Registry: Leber optic atrophy Leber hereditary optic neuropathy National Organization for Rare Disorders (NORD) ...
  2. ... Kjer's optic atrophy Optic atrophy, autosomal dominant Optic atrophy, hereditary, autosomal dominant Optic atrophy, juvenile Optic atrophy, Kjer type Genetic Testing Registry: ...
  3. ... NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE; HMSNR NEUROPATHY, CONGENITAL ...
  4. ... assembly regulatory factor Tests of MFN2 PubMed NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY; HMSN6A MITOFUSIN 2; MFN2 NCBI Gene ClinVar Ando ...
  5. ... V, Bonneau D, Reynier P, Milea D. Dominant optic atrophy. Orphanet J Rare Dis. 2012 ... Childhood-Onset Hereditary Optic Neuropathy. PLoS One. 2017 Jan 12;12( ...
  6. ... intellectual disability; involuntary, rhythmic shaking (tremor); and degeneration ... The prevalence of all hereditary spastic paraplegias combined is estimated to be 2 ...
  7. ... gene have been found to cause autosomal dominant optic atrophy and cataract. This condition causes slowly worsening vision ... in the OPA3 gene that cause autosomal dominant optic atrophy and cataract occur in one copy of the ...
  8. ... the OPA1 gene have been found to cause optic atrophy type 1. This condition typically results in vision ... Most of the OPA1 gene mutations that cause optic atrophy type 1 create a premature stop signal in ...
  9. ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H- ...
  10. ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H- ...
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