Mitochondrial complex 3 deficiency, nuclear type 10
- Synonyms
- MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Abnormality of coagulation
Abnormality of coagulation
- MedGen UID: 375979
- Concept ID: C1846821
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Normochromic anemia
Normochromic anemia
- MedGen UID: 66731
- Concept ID: C0235983
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Abnormality of coagulation
- 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
- Hypothermia
Hypothermia
- MedGen UID: 5720
- Concept ID: C0020672
- Finding: Finding
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Stress/infection-induced lactic acidosis
Stress/infection-induced lactic acidosis
- MedGen UID: 870820
- Concept ID: C4025278
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of prenatal development or birth
- Persistent fetal circulation syndrome
Persistent fetal circulation syndrome
- MedGen UID: 45824
- Concept ID: C0031190
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Persistent fetal circulation syndrome
- Abnormality of the cardiovascular system
- Bradycardia
Bradycardia
- MedGen UID: 140901
- Concept ID: C0428977
- Finding: Finding
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pericardial effusion
Pericardial effusion
- MedGen UID: 10653
- Concept ID: C0031039
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Persistent left superior vena cava
Persistent left superior vena cava
- MedGen UID: 75586
- Concept ID: C0265931
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bradycardia
- Abnormality of the digestive system
- Cholelithiasis
Cholelithiasis
- MedGen UID: 3039
- Concept ID: C0008350
- Finding: Disease or Syndrome
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
- Cholelithiasis
- Abnormality of the eye
- Optic papillitis
Optic papillitis
- MedGen UID: 10565
- Concept ID: C0030353
- Finding: Finding
Abnormality of the eye
- Optic papillitis
- Abnormality of the integument
- Alopecia totalis
Alopecia totalis
- MedGen UID: 75525
- Concept ID: C0263504
- Finding: Disease or Syndrome
Abnormality of the integument
- Alopecia totalis
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Motor delay
- Abnormality of the respiratory system
- Hyperventilation
Hyperventilation
- MedGen UID: 9377
- Concept ID: C0020578
- Finding: Finding
Abnormality of the respiratory system
- Hyperventilation
- 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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