mitochondrial complex II deficiency
MeSH: C565375ORPHA: 3208
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 mitochondrial complex II deficiency, sourced from HPO and Orphanet clinical annotations.
Lower limb hypertoniaFeeding difficulties in infancyFocal myoclonic seizureModerate global developmental delayNoncompaction cardiomyopathyMild microcephalyVesicoureteral refluxExternal ophthalmoplegiaPigmentary retinopathyBlindnessNystagmusDementiaPoor head controlLoss of ambulationAbnormality of the eyeSpasticityMotor delayAbnormality of the cardiovascular systemHypertrophic cardiomyopathyLeft ventricular hypertrophyWeight lossGeneralized myoclonic seizureMotor deteriorationDevelopmental regressionGeneralized muscle weaknessEasy fatigabilityBabinski signProportionate short statureSevere short statureDistal amyotrophyProximal muscle weaknessSkeletal myopathyAbnormal left ventricular functionHyperactive deep tendon reflexesHyperactive patellar reflexProgressive psychomotor deteriorationUpper limb hyperreflexiaReduced visual acuityIrritabilitySeizureAtaxiaSpastic tetraparesisGeneralized hypotoniaIntrauterine growth retardationSpastic paraparesisFrequent fallsExpressive language delaySkeletal muscle atrophyAbnormal atrioventricular conductionKnee flexion contracture
Classification & Codes
MeSH Code
C565375Orphanet Code
ORPHA:3208mitochondrial complex II deficiency
| MeSH | C565375 |
| Orphanet | ORPHA:3208 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO