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Diagnostic clinical clues in dolichol cycle defects
| Characteristic symptoms | Gene |
|---|---|
| Ichthyosiform skin | MPDU1, DOLK, SRD5A3 |
| Dilated cardiomyopathy | DOLK, DPM3 |
| Muscle dystrophy and/or increased CK | DPM1, DPM2, DPM3 |
| Non-syndromal retinitis pigmentosa | DHDDS |
| Ocular abnormalities (coloboma, glaucoma, cataract, optic atrophy) | SRD5A3 |
