Tuberous sclerosis (Q46688): Difference between revisions
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13 August 2026
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Latest revision as of 15:27, 13 August 2026
A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD2D.2 |
||
| English | Tuberous sclerosis |
A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation. |
Statements
CID11:LD2D.2
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dki-india-LD2D.2
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Concluído
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13 August 2026
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