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Disease categories and genes identified.
| Disease category | Causal gene | Number of patients |
|---|---|---|
| Ciliopathy | DYNC2H1 | 7 |
| IFT140 | 1 | |
| KIF7 | 1 (strong candidate) | |
| NEK1 | 1 | |
| WDR19 | 1 (strong candidate) | |
| WDR34 | 2 | |
| Neurodevelopmental syndromes | HUWE1 | 1 |
| NSD1 | 1 | |
| USP9X | 1 (strong candidate) | |
| Connective tissue disorders and disorders of the extracellular matrix | FBN2 | 1 (strong candidate) |
| FGFR2 | 1 | |
| FLNB | 3 (1/3 strong candidate) | |
| MYH3 | 1 (strong candidate) | |
| Ribosomopathy | SBDS | 1 |
| Disorders of cellular signaling | MESP2 | 1 |
