Dolichol kinase deficiency
ORPHA: 91131
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Dolichol kinase deficiency, sourced from HPO and Orphanet clinical annotations.
Dilated cardiomyopathyType I transferrin isoform profileAbnormal circulating enzyme concentration or activityCardiomyocyte hypertrophySeizureFailure to thriveCongestive heart failureElevated circulating hepatic transaminase concentrationIchthyosisMild global developmental delayInterstitial cardiac fibrosisProgressive microcephalyStrabismusVisual impairmentAutistic behaviorReduced eye contactIntellectual disabilityMotor delayAbsent speechBilateral tonic-clonic seizureHypsarrhythmiaProgressive muscle weaknessShort statureSevere muscular hypotoniaFocal-onset seizureFloppy infantMultifocal epileptiform dischargesEEG with generalized slow activityArrhythmiaInfantile spasmsDelayed ability to standDelayed ability to walk
Classification & Codes
Orphanet Code
ORPHA:91131Dolichol kinase deficiency
| Orphanet | ORPHA:91131 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO