eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia |
| Symptom | C0751378|neurologic signs |
| Sentences | 1 |
| PubMedID- 26075130 | Diagnosis is based on neurologic signs of hypotonia, ataxia, developmental delay, and oculomotor apraxia along with the “molar tooth sign” (mts) on mri, which is the neuroradiologic hallmark of the condition. |
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