Coenzyme Q10 deficiency, primary, 3
- Synonyms
- PDSS2-Related Coenzyme Q10 Deficiency
Summary
Available tests
Clinical tests (67 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Decreased level of coenzyme Q10 in skeletal muscle
Decreased level of coenzyme Q10 in skeletal muscle
- MedGen UID: 764872
- Concept ID: C3551958
- Finding: Finding
Abnormality of metabolism/homeostasis
- Edema
Edema
- MedGen UID: 4451
- Concept ID: C0013604
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Hypoalbuminemia
Hypoalbuminemia
- MedGen UID: 68694
- Concept ID: C0239981
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Decreased level of coenzyme Q10 in skeletal muscle
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the eye
- Cerebral visual impairment
Cerebral visual impairment
- MedGen UID: 890568
- Concept ID: C4048268
- Finding: Pathologic Function
Abnormality of the eye
- Cerebral visual impairment
- Abnormality of the genitourinary system
- Nephrotic syndrome
Nephrotic syndrome
- MedGen UID: 10308
- Concept ID: C0027726
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Nephrotic syndrome
- Abnormality of the musculoskeletal system
- Neonatal hypotonia
Neonatal hypotonia
- MedGen UID: 412209
- Concept ID: C2267233
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Neonatal hypotonia
- Abnormality of the nervous system
- Bilateral tonic-clonic seizure with focal onset
Bilateral tonic-clonic seizure with focal onset
- MedGen UID: 164077
- Concept ID: C0877017
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion
- MedGen UID: 892349
- Concept ID: C4024926
- Finding: Finding
Abnormality of the nervous system
- Focal motor status epilepticus
Focal motor status epilepticus
- MedGen UID: 1716066
- Concept ID: C1396824
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Bilateral tonic-clonic seizure with focal onset
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