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Results 41 - 50 of 199 for Absent
  1. RBM8A gene 
    ... needed. Mutations in the RBM8A gene cause thrombocytopenia-absent radius (TAR) syndrome. This disorder is characterized by ...
    https://medlineplus.gov/genetics/gene/rbm8a - Genetics
  2. How can I be sure a genetic test is valid and useful?: MedlinePlus Genetics 
    ... whether a specific genetic variant is present or absent? Clinical validity refers to how well the genetic ...
    https://medlineplus.gov/genetics/understanding/testing/validtest - Genetics
  3. Ornithine translocase deficiency 
    ... a mitochondrial ornithine transporter 1 with reduced or absent function. As a result, ornithine transport is impaired ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  4. Are fingerprints determined by genetics?: MedlinePlus Genetics 
    ... been identified. Rare diseases characterized by abnormal or absent dermatoglyphs provide some clues as to their genetic ...
    https://medlineplus.gov/genetics/understanding/traits/fingerprints - Genetics
  5. Wolfram syndrome 
    ... of a wolframin protein that has reduced or absent function. As a result, calcium levels within cells ...
    https://medlineplus.gov/genetics/condition/wolfram-syndrome - Genetics
  6. Distal 18q deletion syndrome 
    ... ear canals that are narrow (aural stenosis) or absent (aural atresia), and foot abnormalities such as an ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  7. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy 
    ... blood pressure (hypertension), or a small (atrophic) or absent spleen (asplenia). APECED occurs in about 1 in ...
    https://medlineplus.gov/...inopathy-candidiasis-ectodermal-dystrophy - Genetics
  8. Melnick-Needles syndrome 
    ... cause problems with breathing; and other abnormal or absent bones.Characteristic facial features may include bulging eyes ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  9. Autism spectrum disorder 
    ... was used when affected individuals had limited or absent verbal communication, often in combination with intellectual disability. ...
    https://medlineplus.gov/genetics/condition/autism-spectrum-disorder - Genetics
  10. Müllerian aplasia and hyperandrogenism 
    ... aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other ...
    https://medlineplus.gov/.../mullerian-aplasia-and-hyperandrogenism - Genetics
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