Combined oxidative phosphorylation deficiency 43
Available tests
Clinical tests (3 available)
Clinical features
Help- Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I
- MedGen UID: 393796
- Concept ID: C2677650
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex III
- MedGen UID: 460434
- Concept ID: C3149083
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex IV
- MedGen UID: 866520
- Concept ID: C4020800
- Finding: Finding
Abnormal cellular phenotype
- Decreased activity of mitochondrial complex I
- Abnormality of limbs
- Acetabular dysplasia
Acetabular dysplasia
- MedGen UID: 233069
- Concept ID: C1328407
- Finding: Anatomical Abnormality
Abnormality of limbs
- Acetabular dysplasia
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- 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
- Elevated circulating creatine kinase concentration
- Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Projectile vomiting
Projectile vomiting
- MedGen UID: 67442
- Concept ID: C0221151
- Finding: Sign or Symptom
Abnormality of the digestive system
- Feeding difficulties in infancy
- 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
- Delayed CNS myelination
Delayed CNS myelination
- MedGen UID: 867393
- Concept ID: C4021758
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Delayed CNS myelination
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Fetal growth restriction
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