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Combined oxidative phosphorylation defect type 39
ORPHA:565624 · Disease · Disorder
HPO 表現型（共 52 項）
Frequent (79-30%)(19)
- Abnormal cerebellum morphologyHP:0001317
- Abnormal cerebral white matter morphologyHP:0002500
- Abnormal circulating enzyme concentration or activityHP:0012379
- Abnormal corpus callosum morphologyHP:0001273
- Absent speechHP:0001344
- Axial hypotoniaHP:0008936
- BradycardiaHP:0001662
- Cerebellar hypoplasiaHP:0001321
- Deep white matter hypodensitiesHP:0007321
- Delayed speech and language developmentHP:0000750
- Feeding difficulties in infancyHP:0008872
- Hyperintensity of cerebral white matter on MRIHP:0030890
- Increased CSF lactateHP:0002490
- Loss of ambulationHP:0002505
- No social interactionHP:0008763
- Optic disc pallorHP:0000543
- Poor head controlHP:0002421
- Reduced eye contactHP:0000817
- Severe global developmental delayHP:0011344
Occasional (29-5%)(33)
- Ankle clonusHP:0011448
- Atrophy/Degeneration affecting the brainstemHP:0007366
- Babinski signHP:0003487
- Cerebral atrophyHP:0002059
- Congenital foot contracturesHP:0005745
- Corpus callosum atrophyHP:0007371
- CryptorchidismHP:0000028
- Decreased nerve conduction velocityHP:0000762
- DroolingHP:0002307
- DysarthriaHP:0001260
- EEG abnormalityHP:0002353
- HyperreflexiaHP:0001347
- Hypoplasia of the corpus callosumHP:0002079
- HypsarrhythmiaHP:0002521
- Increased circulating lactate concentrationHP:0002151
- Intrauterine growth retardationHP:0001511
- Involuntary movementsHP:0004305
- Lateral ventricle dilatationHP:0006956
- Leg dystoniaHP:0031959
- Limb hypertoniaHP:0002509
- Lower limb spasticityHP:0002061
- MicrocephalyHP:0000252
- Muscle spasmHP:0003394
- Muscle weaknessHP:0001324
- Myopathic faciesHP:0002058
- Nasogastric tube feeding in infancyHP:0011470
- Neonatal hypoglycemiaHP:0001998
- Open mouthHP:0000194
- Prominent calcaneusHP:0012428
- ScoliosisHP:0002650
- SeizureHP:0001250
- Tip-toe gaitHP:0030051
- VomitingHP:0002013