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- RTEL1
- RTEL1-TNFRSF6B
- Cornelia de Lange Syndrome (CdLS)
- Burnett Syndrome
- Miller Syndrome
- Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome)
- Pfeiffer Syndrome
- Taybi-Linder Syndrome (TALS)
- Crouzon Syndrome with Acanthosis Nigricans
- Telomere Biology Disorders
- 2q37 Deletion Syndrome
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