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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Comorbidity C0751748|nonketotic hyperglycinemia
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PubMedID- 25476511 Some mr phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring polg and surf1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring glrx5 gene mutation.

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