eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microcephaly |
| Symptom | C0040188|tic disorder |
| Sentences | 1 |
| PubMedID- 20360857 | Mutations in big2 are found in genetic disorders leading to microcephaly and periventricular heterotopia , highlighting important and specific functions of big2 in humans. |
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