Table 1.
Summary of features associated with pathogenic variants in EFTUD2 in previously reported cases of MFDGA and the affected patient in this study.
| Featuresa | Previously reported casesb | Frequency | This study |
|---|---|---|---|
| Craniofacial phenotype : | 60/60 | 100% | + |
| Zygomatic arch cleft | 7/7 | 100% | N/R |
| External ear anomalies | 57/58 | 98% | + |
| Mandibular hypoplasia | 54/58 | 93% | + |
| Malar hypoplasia | 42/46 | 91% | + |
| Hearing loss | 40/52 | 77% | + |
| Semicircular canal anomalies | 11/15 | 73% | N/R |
| Auditory canal stenosis | 30/48 | 63% | − |
| Facial asymmetry | 25/47 | 53% | + |
| Preauricular tags | 25/58 | 43% | − |
| Choanal atresia | 20/58 | 34% | − |
| Cleft palate | 19/58 | 33% | − |
| Eye anomalies | 9/30 | 30% | + |
| Psychomotor delay | 55/56 | 98% | + |
| Microcephaly | 53/60 | 88% | + |
| Brain MRI anomaly | 8/18 | 44% | − |
| Kidney anomalies | 6/14 | 43% | − |
| Congenital heart defect | 22/54 | 41% | − |
| Hand anomalies | 23/58 | 40% | − |
| Esophageal atresia | 22/59 | 37% | − |
| Epilepsy | 11/52 | 21% | − |
| Spine and thorax anomalies | 9/53 | 17% | − |
| Feet anomalies | 5/58 | 9% | − |
| Genitalia anomalies | 5/57 | 9% | − |
a
features are listed in order of decreasing frequency
b
as reported in Lehalle et al. 2014