Top 20 Syndromes (PowerPoint download)
4 Chromosome microdeletions
4 Chromosome aneuploides
12 Single gene conditions and other disorders
- Ehlers-Danlos Syndrome
- Fragile X Syndrome
- Marfan Syndrome
- Neurofibromatosis type 1
- Noonan Syndrome
- Osteogenesis Imperfecta