Novel classification of oral–facial–digital (OFD) syndrome based on associated clinical feature and molecular basis. MTS, molar tooth sign.
| OFD subtype | Clinical data | Genes |
| OFDI | Polycystic kidney disease, corpus callosum agenesis | OFD1 |
| OFDIV | Tibial dysplasia | TCTN3 |
| OFDVI | Molar tooth sign |
TMEM216, TMEM231, TMEM138, C5orf42, TMEM107, KIAA0753 |
| Classification based on the genotype for other patients | Median cleft of the upper lip | DDX59, NEK1 |
| Cardiac defects | INTU, WDPCP | |
| Retinopathy | SCLT1, TBC1D32/C7orf170 | |
| Severe microcephaly | C2CD3 | |
| Chondrodysplasia | IFT57 | |