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Results 1 - 9 of 9 for Optic atrophy 9
  1. OPA3 gene 
    ... D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 Sep;41(9):e110. doi: 10.1136/jmg.2003.016576. No ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  2. 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
  3. ATP1A3 gene 
    ... group of features: cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. This specific presentation is ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  4. FA2H gene 
    ... in this gene resulting in intellectual decline and optic nerve atrophy were said to have a disorder called FA2H- ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  5. OAT gene 
    ... Nikoskelainen E. Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. Ophthalmology. 2001 Apr;108(4):721-9. doi: 10.1016/s0161-6420(00)00587-x. ...
    https://medlineplus.gov/genetics/gene/oat - Genetics
  6. PNKP gene 
    ... Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics. 2013 Feb;14(1):43-51. doi: 10.1007/s10048-012-0351-8. Epub 2012 Dec 9. Citation on PubMed Reynolds JJ, Walker AK, Gilmore ...
    https://medlineplus.gov/genetics/gene/pnkp - Genetics
  7. SMCHD1 gene 
    ... a role in normal development of the nose, eyes, and other structures of the head and face and seems to be involved in repairing damaged DNA. However, little is known about its roles in these processes. At least nine SMCHD1 gene mutations have been found to cause ...
    https://medlineplus.gov/genetics/gene/smchd1 - Genetics
  8. FGFR3 gene 
    ... ears, the skeleton, and the glands in the eyes and mouth in people with LADD syndrome. More ... epidermal nevus syndrome. J Pediatr Neurosci. 2014 Jan;9(1):66-9. doi: 10.4103/1817-1745. ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  9. CLPB gene 
    ... infections; and clouding of the lenses of the eyes (cataracts). In addition, affected individuals have an increased ... CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics