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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. Levy-Yeboa Syndrome

    Levy-Yeboa syndrome (LYS) is a recently recognized,inherited (congenital),multi-system disorder involving signs of musculoskeletal involvement such as low muscle tone and stiffening of the joints of the arms and legs (contractions),loss of hearing (neuronal deafness),intense burn-like eruptions of the skin containing clear fluid (bullous eruptions) and dangerous gastrointestinal distress ...

  3. Rosenberg Chutorian Syndrome

    Important It is possible that the main title of the report Rosenberg Chutorian 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. ...

  4. Kienböck Disease

    Important It is possible that the main title of the report Kienbock Disease 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. PMM2-CDG

    Important It is possible that the main title of the report Congenital Disorders of Glycosylation Type Ia 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. Sturge Weber Syndrome

    Important It is possible that the main title of the report Sturge Weber 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. ...

  7. Oculo-Dento-Digital Dysplasia

    Important It is possible that the main title of the report Oculo - Dento - Digital Dysplasia 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. Tangier Disease

    Important It is possible that the main title of the report Tangier Disease 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. Alpers Disease

    Important It is possible that the main title of the report Alpers Disease 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. Schindler disease

    Important It is possible that the main title of the report Schindler Disease 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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