Table 1 of Katagiri, Mol Vis 2013; 19:2393-2406.
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 |