Table 1.
Patient Demographic Characteristics, Molecular Diagnosis, and Clinical and Endocrine Features
| Characteristic | n (N) | Percentage |
|---|---|---|
| Gender | ||
| Male | 74 (150) | 49.3% |
| Female | 76 (150) | 50.7% |
| Molecular diagnosis | ||
| POLR3A | 56 (150) | 37.3% |
| POLR3B | 81 (150) | 54.0% |
| POLR1C | 13 (150) | 8.7% |
| Clinical features a | ||
| Neurological | ||
| Ataxia | 49 (52) | 94.2% |
| Tremor | 48 (66) | 72.7% |
| Dystonia | 26 (31) | 83.9% |
| Dysarthria | 34 (40) | 85.0% |
| Dysphagia | 18 (37) | 48.7% |
| Sialorrhea | 12 (25) | 48.0% |
| Seizures | 17 (61) | 27.9% |
| Non-neurological | ||
| Myopia | 90 (103) | 87.4% |
| Teeth abnormalities | 99 (117) | 84.6% |
| Endocrine features | ||
| Short stature | ||
| Clinical impression | 57 (93) | 61.3% |
| Growth data | 53 (115) | 46.1% |
| Delayed puberty | ||
| Clinical impression | 57 (74) | 77.0% |
| Tanner stage | 27 (32) | 84.3% |
| Abnormal thyroid function | 13 (59) | 22.0% |
n: number of identified patients per data sample. N: total number of patients in the data sample.
a N values vary as clinical data were not available for all 150 patients in the cohort.