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17p11.2 Duplication Syndrome
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DISO:Disease or Syndrome |
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Spermatozoa Duplicate Tail | Semen
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DISO:Finding |
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Hct>39% or hgb>13g>=3 cycle
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DISO:Finding |
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Nonspecific changes on electroretinogram in carrier females
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DISO:Finding |
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Some patients may become wheelchair-bound
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DISO:Finding |
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Some patient may become wheelchair-bound
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DISO:Finding |
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Chlamydia trachomatis genital infection
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DISO:Disease or Syndrome |
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Preferred method of contact
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DISO:Finding |
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Caused by mutation in the suppression of tumorigenicity 14 gene (ST14, 606797.0001)
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DISO:Finding |
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Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities
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DISO:Disease or Syndrome |
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Fetid breath due to increased dimethylsulfide
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DISO:Finding |
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Heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment
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DISO:Finding |
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