Table 1 Phenotypic characteristics of patients evaluated in this study
Characteristic | Number | % |
|---|---|---|
Sex | ||
Male | 441 | 50.2 |
Female | 438 | 49.8 |
Age when onset (years) | ||
Age < 6 | 406 | 46.2 |
Age 6–18 | 387 | 44.0 |
Age > 18 | 86 | 9.8 |
Family history | ||
Autosomal recessive | 260 | 29.6 |
Autosomal dominant | 160 | 18.2 |
X-linked | 10 | 1.1 |
Ambiguous | 5 | 0.6 |
No family history | 329 | 37.4 |
Not provided | 113 | 12.9 |
Severity | ||
Mild-moderate | 57 | 6.5 |
Severe-profound | 822 | 93.5 |
Physical exam | ||
Normal | 719 | 81.8 |
Any abnormality | 73 | 8.3 |
Not provided | 87 | 9.9 |