Table 3

Clinical features of the two patients with EFTUD2 mutations, demonstrating similarities and dissimilarities between the two

Case 1Case 7
Developmental delayYesYes
MicrocephalyYesYes
Vertebral anomaliesYes - fusion of C2 to C5 vertebraeNone
Hearing lossYes - sensorineural hearing loss on both sidesHearing loss on the right side
AuriclesAbnormalAbnormal
LimbsHypoplastic right thumb/limited flexion and extension of the right interphalangeal thumb jointNormal
PalateNormalSoft cleft palate
Cardiac anomalyNoneTetralogy of Fallot
Facial asymmetryNoneYes