Mitochondrial complex 4 deficiency, nuclear type 4
- Synonyms
- MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4
Summary
Available tests
Clinical tests (11 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Decreased plasma free carnitine
Decreased plasma free carnitine
- MedGen UID: 863446
- Concept ID: C4015009
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating alanine aminotransferase concentration
Elevated circulating alanine aminotransferase concentration
- MedGen UID: 57740
- Concept ID: C0151905
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating aspartate aminotransferase concentration
Elevated circulating aspartate aminotransferase concentration
- MedGen UID: 57497
- Concept ID: C0151904
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyper-beta-alaninemia
Hyper-beta-alaninemia
- MedGen UID: 75702
- Concept ID: C0268630
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Increased circulating lactate concentration
Increased circulating lactate concentration
- MedGen UID: 332209
- Concept ID: C1836440
- Finding: Finding
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Decreased plasma free carnitine
- Abnormality of the cardiovascular system
- Bradycardia
Bradycardia
- MedGen UID: 140901
- Concept ID: C0428977
- Finding: Finding
Abnormality of the cardiovascular system
- Congestive heart failure
Congestive heart failure
- MedGen UID: 9169
- Concept ID: C0018802
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Left ventricular hypertrophy
Left ventricular hypertrophy
- MedGen UID: 57442
- Concept ID: C0149721
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular hypertrophy
Ventricular hypertrophy
- MedGen UID: 87400
- Concept ID: C0340279
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Bradycardia
- 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
- Hepatic steatosis
Hepatic steatosis
- MedGen UID: 398225
- Concept ID: C2711227
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties in infancy
- Abnormality of the genitourinary system
- Increased urine succinate level
Increased urine succinate level
- MedGen UID: 1771435
- Concept ID: C5421603
- Finding: Finding
Abnormality of the genitourinary system
- Increased urine succinate level
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Brain atrophy
Brain atrophy
- MedGen UID: 1643639
- Concept ID: C4551584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Brain atrophy
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Apnea
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
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