Table 1 of
Katagiri, Mol Vis 2013; 19:2393-2406. Table 1 of
Katagiri, Mol Vis 2013; 19:2393-2406.
Table 1. Clinical characteristics
| Clinical findings | Patient II-1 | Patient II-2 | Percentage (%) in 182 casesa |
|---|---|---|---|
| Low vision | + | + | 100 |
| Subcapsular cataracts | + | + | 32 |
| Hearing loss | – | – | 88 |
| Cardiomyopathy | – | – | 62 |
| Type 2 diabetes mellitus | + | – | 68 |
| Childhood obesity | + | – | 98 |
| Hyperinsulinemia | – | + | 92 |
| Short stature | + | + | 98 |
| Hypertriglyceridemia | + | + | 52 |
| Hypothyroidism | – | + (subclinical) | 17 |
| Hypogonadism | + | + | 78 |
| Elevated hepatic enzyme levels | + | + | 92 |
| Renal insufficiency | – | – | 50 |
| Renal hypertension | – | – | 30 |
| Pulmonary symptoms | – | – | 52 |
| Asthma | + (childhood) | + (childhood) | 19 |
| Muscle weakness | – | – | 29 |
| Global development delay | – | – | 49 |
| Wide feet | + | + | ND |
| Abnormal digits | – | – | ND |
| Scoliosis | – | – | ND |
| Alopecia | – | – | ND |