eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | angelman syndrome |
| Symptom | C0004352|autism |
| Sentences | 1 |
| PubMedID- 21484597 | A developmental picture is now emerging whereby ube3a gene dosage on chromosome 15 alters synaptic function, with deficiencies leading to angelman syndrome and overexpression associated with classic autism symptomatology. |
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