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Clinical signs associated with PDC deficiency.
| Sign | No. of cases (% of total) | % Males |
|---|---|---|
| DD/MR/PMR | 211 (57) | 45 |
| Hypotonia/hypertonia | 169 (46) | 51 |
| Seizures | 95 (26) | 47 |
| Microcephaly | 83 (22) | 23 |
| Ataxia | 72 (19) | 78 |
| Respiratory distress | 51 (14) | 59 |
| Facial dysmorphism | 44 (11) | 34 |
| Spasticity | 38 (10) | 34 |
| Peripheral neuropathy | 26 (7) | 88 |
| Optic atrophy | 15 (4) | 60 |
| Nystagmus | 11 (3) | 64 |
| Ptosis | 9 (2.5) | 89 |
| Choreoathetoid movements | 8 (2) | 88 |
| Strabismus | 6 (1.6) | 100 |
