Table 2 of Riazuddin, Mol Vis 2009; 15:1050-1056. Table 2 of Riazuddin, Mol Vis 2009; 15:1050-1056.
Table 2. Clinical characteristics of affected individuals of family 60078.
| Clinical characteristics | Individual 9 | Individual 10 | Individual 12 | Individual 13 | Individual 15 | Individual 16 |
|---|---|---|---|---|---|---|
| Sex | M | F | M | M | M | M |
| Age (at examination) |
13 years | 8 years | 12 years | 14 years | 15 years | 17 years |
| Cataract (Age at diagnosis) |
Congenital | Congenital | Congenital | Congenital | Congenital | Congenital |
| Cataract (phenotype) |
Operated | Cortical cataract | Operated | Operated | Operated | Operated |
| Nystagmus | _ | _ | _ | + | + | + |
| Ataxia | + | + | + | + | + | + |
| Mental retardation | + | + | + | + | + | + |
| Hypogonadism | NT | NT | NT | NT | NT | NT |
| Serum CK | 516.00 | 270.00 | NT | NT | NT | NT |
| Aldolase test | 11.80 | 7.90 | NT | NT | NT | NT |
| Myopathic EMG | Muscular dystrophy | Muscular dystrophy | NT | NT | NT | NT |
| Cerebellar atrophy | + | + | NT | NT | NT | NT |
| Dysarthria | + | + | + | + | + | + |
| Short stature | + | + | + | + | + | + |
| Skeletal abnormalities | + | + | + | + | + | + |