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43 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... can vary among affected individuals. Many people with hand-foot-genital syndrome have defects in the ureters, which are tubes that carry ... that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear ...
  2. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... name >Poland's syndrome</other_name><other_name >Unilateral defect of pectoralis major and syndactyly of the hand</other_name></other_names></topic><topic ><url >https:// ...
  3. PNPLA6-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247161
    ... onset retinitis pigmentosa with variable combinations of chronic polyneuropathy, ... genetic defect. Biallelic pathogenic variants in PHYH or PEX7 are ...
  4. xmlmplus_topics_2024-05-22.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-05-22.xml
    ... strong>, all newborns are checked for congenital heart defects. A <a href="https://medlineplus.gov/lab-tests/pulse-oximetry/">pulse oximeter</a> is clipped to your baby's hands or feet to measure blood oxygen. If it ...
  5. NLM Digital Collections - Abridged Index medicus : specimen fasciculus 
    Publication: Washington, D.C. : U.S. Dept. of Health, Education, and Welfare, Public Health Service, 1965
    resource.nlm.nih.gov/0000044
    ... JAMA 190:554-5, 9 Nov 64 Subclinical polyneuropathy in renal insufficiency Preswick G, et al. Lancet 2:731-2, 3 Oct 64 Evaluation and management of nerve injuries in the hand. Moberg E. Surg CUn N Amer 44:1019- ...
  6. Genetic Conditions: F 
    https://medlineplus.gov/genetics/condition-f
    ... without mental retardation, see Epilepsy-aphasia spectrum Focal hand dystonia, see ... folate malabsorption Folling disease, see Phenylketonuria ...
  7. Genetic Conditions: S 
    https://medlineplus.gov/genetics/condition-s
    ... cartilage dysplasia, see Kniest dysplasia Swiss type amyloid polyneuropathy, ... linear skin defects syndrome Syndromic X-linked mental retardation, Siderius type, ...
  8. Part 2 – Children aged under 16 – signs and symptoms and investigative tests - Suspected neurological conditions - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK542047
    ... may be the first symptom of an acute polyneuropathy (Guillain−Barré syndrome) or other neuro-inflammatory conditions. ... syndrome Guillain−Barré syndrome is a relatively rare polyneuropathy that is usually self-limiting but can have ...
  9. Mitochondrial Neurogastrointestinal Encephalopathy Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1179
    ... liver mitochondria. Other names for MNGIE disease include polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction (POLIP); oculogastrointestinal ...
  10. Refsum Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1353
    ... an abnormal smell test [ Gibberd et al 2004 ]. Polyneuropathy. The polyneuropathy is a mixed motor and sensory neuropathy that ... of Acute Presentation Many acute features such as polyneuropathy, ataxia, ichthyosis, and cardiac arrhythmias resolve with reduction ...
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