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Results 1 - 4 of 4 for Gillespie syndrome
  1. Gillespie syndrome 
    Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  2. ITPR1 gene 
    ... gene mutations have been identified in people with Gillespie syndrome, a disorder that involves eye abnormalities, weak muscle ... intellectual disability. The ITPR1 gene mutations that cause Gillespie syndrome likely result in a protein with an altered ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics
  3. PAX6 gene 
    ... EI, Howarth RJ, Robinson D. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. Ophthalmic Genet. ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  4. CDH23 gene 
    ... mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in ... Reynolds A, Williams DS, Gillespie PG, Muller U. Cadherin 23 is a component ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics