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Children's Health

Medical Reference Related to Children's Health

  1. X-Linked Myopathy with Excessive Autophagy

    X-linked myopathy with excessive autophagy (XMEA) is an extremely rare genetic disorder characterized by muscle disease (myopathy). The disorder is fully expressed in males only and is characterized by slowly progressive muscle weakness,especially in the legs. Onset is usually during childhood often between 5-10 years of age. XMEA occurs due to mutations of an unidentified gene on the X ...

  2. Goodman Syndrome

    Important It is possible that the main title of the report Goodman Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

  3. Arginase Deficiency

    Important It is possible that the main title of the report Arginase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

  4. Schinzel Syndrome

    Important It is possible that the main title of the report Schinzel Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

  5. Hyperekplexia

    Important It is possible that the main title of the report Hyperexplexia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

  6. Hepatic Fibrosis, Congenital

    Important It is possible that the main title of the report Hepatic Fibrosis, Congenital is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

  7. Factor XIII Deficiency

    Important It is possible that the main title of the report Factor XIII Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

  8. Chromosome 4, Monosomy 4q

    Important It is possible that the main title of the report Chromosome 4, Monosomy 4q is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

  9. Respiratory Distress Syndrome, Infant

    Important It is possible that the main title of the report Respiratory Distress Syndrome, Infant is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

  10. Coffin Siris Syndrome

    Important It is possible that the main title of the report Coffin Siris Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...

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