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15 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_2024-06-26.xml 
    https://medlineplus.gov/xml/mplus_topics_2024-06-26.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. 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 ...
  6. 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, ...
  7. 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 ...
  8. 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 ...
  9. 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 ...
  10. Genetic Conditions 
    https://medlineplus.gov/genetics/condition
    ... infectious polyneuritis, see Guillain-Barré syndrome Acute inflammatory polyneuropathy, see Guillain-Barré syndrome Acute myelogenous leukemia with ... see Andermann syndrome Agenesis of corpus callosum with polyneuropathy, see Andermann syndrome Aggressive fibromatosis, see Desmoid tumor ...
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