Table 1. Summary of the clinical phenotype of the three affected patients with DMXL2 mutations (see Figure 1 for patient numbering).
| Patient | #123 | #124 | #125 |
| Age (years) | 21.4 | 20.3 | 16.8 |
| Weight at birth g (SDS) | 2,700 (−2.2) | 2,810 (−0.9) | 3,060 (−1.1) |
| Height at birth cm (SDS) | 46 (−2.5) | 47 (−1.1) | 49 (−0.8) |
| Postnatal growth retardation | + | + | + |
| Height cm (SDS) | 159 (−2.8) | 165 (−1.8) | 156 (−2.5) |
| Body mass index kg/m2 (SDS) | 17.4 (−1.9) | 21.3 (−0.2) | 15.2 (−2.0) |
| Head circumference, cm (SDS) | 54.5 (−1.9) | 56 (−0.8) | 51.5 (−2.5) |
| Ataxia | + | + | + |
| Dystonia | + | + | + |
| Demyelinating sensorimotor polyneuropathy | + | + | + |
| Pyramidal syndrome | + | + | + |
| Motor delay | + | + | + |
| Dysarthria | + | + | + |
| Partial frontal alopecia | + | + | + |
| Intellectual disability (moderate) | + | + | + |
| White matter disease (moderate subcortical, temporal) | + | + | + |
| Hypoglycemia during childhood (asymptomatic) | + | + | + |
| Nonautoimmune insulin-dependent diabetes mellitus | + | + | + |
| Hypogonadotropic hypogonadism | + | + | + |
| Low testicular volume (normal values in young adults >12 ml) | 5 ml | 7 ml | 8 ml |
| Central hypothyroidism | + | + | + |
| Hypoplastic pituitary gland | + | − | − |
| Other features | Progressive hearing loss |
SDS, standard deviation score.