TMEM94
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 1/2 |
| Female | 50.0% | 1/2 |
| Indifferent | 0% | 0/2 |
| Unknown | 0% | 0/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/2 |
| Birth Weight abnormalities | 50.0% | 1/2 |
| > P98 : Large for gestational age | 50.0% | 1/2 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 0% | 0/2 |
| Current Weight abnormalities | 50.0% | 1/2 |
| < P3 : Decreased body weight | 50.0% | 1/2 |
| Current Head circumference abnormalities | 50.0% | 1/2 |
| < P3 : Microcephaly | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 2/2 |
| Low-set ears | 100.0% | 2/2 |
| Large earlobe | 50.0% | 1/2 |
| Prominent ear helix | 50.0% | 1/2 |
| Abnormality of the nose | 100.0% | 2/2 |
| Depressed nasal bridge | 50.0% | 1/2 |
| Flat nasal alae | 50.0% | 1/2 |
| Narrow nose | 50.0% | 1/2 |
| Short nose | 50.0% | 1/2 |
| Abnormality of the mouth | 100.0% | 2/2 |
| Long philtrum | 100.0% | 2/2 |
| Thin upper lip vermilion | 50.0% | 1/2 |
| Heart | ||
| Abnormality of the heart | 100.0% | 2/2 |
| Secundum atrial septal defect | 50.0% | 1/2 |
| Tetralogy of Fallot with pulmonary atresia | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 1/2 |
| Long fingers | 50.0% | 1/2 |