Table 1.
Demographics and key outcome measures within the WDR45 cohort
| 1A. Demographics | |
|---|---|
| Cases: N | 123 |
| Cases from literature review: N (%) | 106 (86%) |
| Sex (F): N (%) | 104 (8.5%) |
| Diagnosis | |
| Average age in years (from n=60) | 16.7 +/− 14.3 (SD) |
| Range age in years (from n=60) | 0.8 – 52.0 years |
| Molecular diagnostic method (from n=83) | |
| Targeted (Single-Gene) or Panel Test: N (%) | 24 (28.9%) |
| Whole exome testing: N (%) | 55 (66.3%) |
| Whole genome testing: N (%) | 4 (4.8%) |
| Clinical presentation | |
| Average age (from 91 individuals) | 0.9 +/− 0.8 |
| Range of ages in years (from 91 individuals) | 0.1–6.0 |
| Clinical features at presentation (from n=123) | |
| Developmental delay: N (%) | 74 (60.5) |
| Seizures: N (%) | 32 (26.0) |
| Movement disorder: N (%) | 3 (2.4) |
| Autistic features: N (%) | 1 (0.8) |
| Microcephaly noted (from 47 individuals): N (%) | 13 (27.7) |
| Clinical Trajectory | |
| Progressive loss of motor function (from 84 individuals) : N (%) | 41 (51.2) |
| Progressive loss of verbal function (from 71 individuals) : N (%) | 27 (38.0) |
| 1B. Imaging Findings | |
| MRIs: N | 159 |
| Individuals with MRIs available: N | 98 |
| Average age in years (from n=89) | |
| Range age in years (from n=60) | |
| MRI features | |
| Atrophy | |
| Supratentorial: N (%) | 104 (65.4) |
| Corpus Collosum: N (%) | 60 (37.7) |
| Brainstem: N (%) | 6 (3.8) |
| Cerebellum: N (%) | 37 (23.3) |
| Abnormal Myelination: N (%) | 45 (28.3) |
| Iron deposition: N (%) | 82 (51.6) |