Clinical features of the two patients with EFTUD2 mutations, demonstrating similarities and dissimilarities between the two
| Case 1 | Case 7 | |
| Developmental delay | Yes | Yes |
| Microcephaly | Yes | Yes |
| Vertebral anomalies | Yes - fusion of C2 to C5 vertebrae | None |
| Hearing loss | Yes - sensorineural hearing loss on both sides | Hearing loss on the right side |
| Auricles | Abnormal | Abnormal |
| Limbs | Hypoplastic right thumb/limited flexion and extension of the right interphalangeal thumb joint | Normal |
| Palate | Normal | Soft cleft palate |
| Cardiac anomaly | None | Tetralogy of Fallot |
| Facial asymmetry | None | Yes |