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 |
ND, not described. aThe cases are cited [13].