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Combined oxidative phosphorylation defect type 27
ORPHA:477774 · Disease · Disorder
HPO 表現型（共 29 項）
Frequent (79-30%)(17)
- Abnormal cerebral white matter morphologyHP:0002500
- Decreased activity of mitochondrial complex IHP:0011923
- Decreased activity of mitochondrial complex IIIHP:0011924
- Decreased activity of mitochondrial complex IVHP:0008347
- Developmental regressionHP:0002376
- Diffuse cerebral atrophyHP:0002506
- Epileptic encephalopathyHP:0200134
- Generalized myoclonic seizureHP:0002123
- Global developmental delayHP:0001263
- Hearing impairmentHP:0000365
- Increased circulating lactate concentrationHP:0002151
- Intellectual disabilityHP:0001249
- Multifocal seizuresHP:0031165
- Progressive visual lossHP:0000529
- Ragged-red muscle fibersHP:0003200
- Status epilepticusHP:0002133
- TetraparesisHP:0002273
Occasional (29-5%)(12)
- Absent speechHP:0001344
- Autistic behaviorHP:0000729
- Diffuse cerebellar atrophyHP:0100275
- DysphagiaHP:0002015
- EEG with periodic lateralized epileptiform dischargesHP:0010853
- Hypoplasia of the corpus callosumHP:0002079
- Hypoplastic hippocampusHP:0025517
- Involuntary movementsHP:0004305
- Nasogastric tube feedingHP:0040288
- Nonimmune hydrops fetalisHP:0001790
- PainHP:0012531
- Upper limb postural tremorHP:0007351