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 |