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- Pulmonary Arterial Hypertension (PAH)
- Cat Eye Syndrome
- CDG Syndrome (Congenital Disorders of Glycosylation)
- 2q37 Deletion Syndrome
- Shprintzen-Goldberg Syndrome
- Patau Syndrome (Trisomy 13)
- Miller-Dieker Syndrome (MDS)
- Edwards Syndrome (Trisomy 18)
- Timothy Syndrome
- Taybi-Linder Syndrome (TALS)
- Sotos Syndrome
- Noonan Syndrome with Multiple Lentigines (LEOPARD Syndrome)
- Miller Syndrome
- Costello Syndrome
- Cohen Syndrome
- Cornelia de Lange Syndrome (CdLS)
- Smith-Magenis Syndrome
- Thanatophoric Dysplasia
- Vici Syndrome
- Wiedemann-Rautenstrauch Syndrome
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