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15 results
  1. Achromatopsia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/achromatopsia
    ... condition. Learn more about the genes associated with Achromatopsia ... signs and symptoms of the condition. Other Names for This Condition ...
  2. FRMD7-Related Infantile Nystagmus - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3822
    ... phase (lymphoproliferative infiltration of bone marrow & reticuloendothelial system) Achromatopsia AFT6 CNGA3 CNGB3 GNAT2 PDE6C PDE6H AR Infantile nystagmus (pendular or jerk nystagmus in achromatopsia) In achromatopsia: Reduced or complete loss of color ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Achromatopsia</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  4. xmlmplus_topics_2024-06-25.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-06-25.xml
    ... rose in full bloom. If you have a color vision defect, you may see these colors differently than most ... p> <p>There are three main kinds of color vision defects. Red-green color vision defects are the most ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/achromatopsia</url><title >Achromatopsia</title><other_names ><other_name >Achromatism</other_name>< ...
  6. Alström Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1267
    ... mellitus is less frequent (5%-10%) in BBS. Achromatopsia (ACH) ATF6 CNGA3 CNGB3 GNAT2 PDE6C PDE6H AR ... see Mitochondrial Disorders Overview ). Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  7. Nonsyndromic Retinitis Pigmentosa Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1417
    ... function. Loss of central visual acuity, photoaversion, and color vision defects appear before peripheral visual loss and defective dark ...
  8. Genetic Conditions 
    https://medlineplus.gov/genetics/condition
    ... see SADDAN Achondroplastic dwarfism, see Achondroplasia Achromatism, see Achromatopsia Achromatopsia Acid ceramidase deficiency, see Farber lipogranulomatosis Acid ...
  9. Color blindness 
    https://medlineplus.gov/ency/article/001002.htm
    ... The most severe form of color blindness is achromatopsia. This is a rare condition in which a ... Symptoms vary from person to person, but may include: Trouble seeing colors and the brightness of colors ...
  10. Genetic Conditions: T 
    https://medlineplus.gov/genetics/condition-t
    ... X-linked dystonia-parkinsonism Total color blindness, see Achromatopsia Total hexosaminidase deficiency, see Sandhoff disease Total HPRT ... Triple H syndrome, see Ornithine translocase deficiency Triple symptom complex, see Behçet disease Triple X syndrome, see ...
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