Table 1 of Riazuddin, Mol Vis 2009; 15:1050-1056. Table 1 of Riazuddin, Mol Vis 2009; 15:1050-1056.
Table 1. Clinical characteristics of affected individuals of family 60067.
| Clinical characteristics | Individual 10 | Individual 11 | Individual 17 | Individual 18 | Individual 19 |
|---|---|---|---|---|---|
| Sex | M | M | M | F | F |
| Age (at examination) |
9 years | 6 years | 12 years | 17 years | 19 years |
| Cataract (Age of onset) |
after 2 year | after 2year | after 2 year | after 3 year | after 3year |
| Cataract (phenotype) |
Membranous cataract | Membranous cataract | Membranous cataract | Membranous cataract | Membranous cataract |
| Nystagmus | + | + | + | + | + |
| Ataxia | + | + | + | + | + |
| Mental retardation | + | + | + | + | + |
| Hypogonadism | NT | NT | NT | + | + |
| Serum CK | 393.1 | NT | NT | 258 | NT |
| Aldolase test | 6.8 | NT | NT | 6.3 | NT |
| Myopathic EMG | Muscular Dystrophy | NT | NT | Muscular dystrophy | NT |
| Cerebellar atrophy | NT | NT | NT | NT | NT |
| Dysarthria | + | + | + | + | + |
| Short stature | NT | NT | NT | + | + |
| Skeletal abnormalities | NT | NT | NT | + | + |